41 results on '"Juliana Maria Ferraz Sallum"'
Search Results
2. Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients
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Gavin Arno, Rubens Belfort, Fernanda Belga Ottoni Porto, Juliana Maria Ferraz Sallum, Rosane Guazi Resende, and Fabiana Louise Motta
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Male ,Pediatrics ,medicine.medical_specialty ,Genotype ,Retinal dystrophy ,Leber Congenital Amaurosis ,Population ,Cell Cycle Proteins ,Nerve Tissue Proteins ,Antigens, Neoplasm ,Retinal Dystrophies ,Genetics ,Humans ,Medicine ,Allele ,Eye Proteins ,education ,Alleles ,Genetic Association Studies ,Genetics (clinical) ,education.field_of_study ,CRB1 ,business.industry ,Childhood blindness ,Membrane Proteins ,Eye Diseases, Hereditary ,medicine.disease ,Phenotype ,Pedigree ,Cytoskeletal Proteins ,Mutation ,Cohort ,Female ,business ,Brazil - Abstract
Leber congenital amaurosis (LCA) and early-onset retinal dystrophy (EORD) are severe inherited retinal dystrophy that can cause deep blindness childhood. They represent 5% of all retinal dystrophies in the world population and about 10% in Brazil. Clinical findings and molecular basis of syndromic and nonsyndromic LCA/EORD in a Brazilian sample (152 patients/137 families) were studied. In this population, 15 genes were found to be related to the phenotype, 38 new variants were detected and four new complex alleles were discovered. Among 123 variants found, the most common were CEP290: c.2991+1655A>G, CRB1: p.Cys948Tyr, and RPGRIP1: exon10-18 deletion.
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- 2020
3. TUBGCP4– associated microcephaly and chorioretinopathy
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Mariana Vallim Salles, Mariana Matioli da Palma, Juliana Maria Ferraz Sallum, Guilherme Eiichi da Silva Takitani, Fabiana Louise Motta, and Luiz H. Lima
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0301 basic medicine ,Retinal degeneration ,Microcephaly ,Pediatrics ,medicine.medical_specialty ,genetic structures ,business.industry ,030105 genetics & heredity ,medicine.disease ,Ciliopathies ,eye diseases ,03 medical and health sciences ,Ophthalmology ,Inborn Genetic Diseases ,0302 clinical medicine ,Recessive inheritance ,Pediatrics, Perinatology and Child Health ,030221 ophthalmology & optometry ,Medicine ,business ,Genetics (clinical) - Abstract
Background Microcephaly and chorioretinopathy (MCCRP) is a rare neuro-ophthalmologic disorder that causes microcephaly and chorioretinopathy. In a recessive inheritance pattern, there are three typ...
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- 2020
4. Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome
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Joseph Ryu, Stephen H. Tsang, Andrew R. Webster, Eeva-Marja Sankila, Ramiro S. Maldonado, Wadih M. Zein, Lindsey Pyers, Elena R. Schiff, Cristy A. Ku, Jeeyun Ahn, Michael B. Gorin, Mariana Matioli da Palma, Michalis Georgiou, Juliana Maria Ferraz Sallum, Jin Kyun Oh, Paul Yang, Ajoy Vincent, Byron L. Lam, Mark E. Pennesi, Michel Michaelides, and Austin D. Igelman
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Male ,Pathology ,Usher syndrome ,Visual Acuity ,Cell Cycle Proteins ,Retinal Pigment Epithelium ,Sensorineural ,Neurodegenerative ,Eye ,Ophthalmology & Optometry ,Autoantigens ,Multimodal Imaging ,chemistry.chemical_compound ,0302 clinical medicine ,2.1 Biological and endogenous factors ,Aetiology ,Frameshift Mutation ,Tomography ,Genetics (clinical) ,Arylsulfatases ,Pediatric ,0303 health sciences ,Middle Aged ,3. Good health ,medicine.anatomical_structure ,Phenotype ,Codon, Nonsense ,Sensorineural hearing loss ,Female ,medicine.symptom ,Usher Syndromes ,Tomography, Optical Coherence ,ARSG ,Adult ,medicine.medical_specialty ,ABHD12 ,cep250 ,Adolescent ,Hearing loss ,Hearing Loss, Sensorineural ,Article ,Pallor ,03 medical and health sciences ,Young Adult ,Rare Diseases ,Clinical Research ,Opthalmology and Optometry ,Retinitis pigmentosa ,otorhinolaryngologic diseases ,medicine ,Genetics ,Humans ,CEP78 ,Genetic Testing ,Hearing Loss ,Codon ,Eye Disease and Disorders of Vision ,030304 developmental biology ,Retrospective Studies ,Aged ,Retinal pigment epithelium ,business.industry ,Neurosciences ,Dystrophy ,Retinal ,medicine.disease ,Monoacylglycerol Lipases ,Ophthalmology ,Orphan Drug ,chemistry ,Nonsense ,Optical Coherence ,Atypical usher syndrome ,Pediatrics, Perinatology and Child Health ,sense organs ,business ,030217 neurology & neurosurgery ,Cone-Rod Dystrophies - Abstract
BACKGROUND: Atypical Usher syndrome (USH) is poorly defined with a broad clinical spectrum. Here we characterize the clinical phenotypic of disease caused by variants in CEP78, CEP250, ARSG, and ABHD12. MATERIALS AND METHODS: Chart review evaluating demographic, clinical, imaging, and genetic findings of 19 patients from 18 families with a clinical diagnosis of retinal disease and confirmed disease causing variants in CEP78, CEP250, ARSG, or ABHD12. RESULTS: CEP78-related disease included sensorineural hearing loss (SNHL) in 6/7 patients and demonstrated a broad phenotypic spectrum including: vascular attenuation, pallor of the optic disc, intraretinal pigment, retinal pigment epithelium mottling, areas of mid-peripheral hypo-autofluorescence, outer retinal atrophy, mild pigmentary changes in the macula, foveal hypo-autofluorescence, and granularity of the ellipsoid zone. Nonsense and frameshift variants in CEP250 showed mild retinal disease with progressive, non-congenital SNHL. ARSG variants resulted in a characteristic pericentral pattern of hypo-autofluorescence with one patient reporting non-congenital SNHL. ABHD12 related disease showed rod-cone dystrophy with macular involvement, early and severe decreased best corrected visual acuity, and non-congenital SNHL ranging from unreported to severe. CONCLUSIONS: This study serves to expand the clinical phenotypes of atypical USH. Given the variable findings, atypical USH should be considered in patients with peripheral and macular retinal disease even without the typical RP phenotype especially when SNHL is noted. Additionally, genetic screening may be useful in patients that have clinical symptoms and retinal findings even in the absence of known SNHL given the variability of atypical USH.
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- 2021
5. Human leukocyte antigen class I and II genes associated with dipyrone-related Stevens-Johnson syndrome and severe ocular complications in a Brazilian population
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Chikara Inoue, José Álvaro Pereira Gomes, Tais Hitomi Wakamatsu, Shigeru Kinoshita, Juliana Maria Ferraz Sallum, Mayumi Ueta, Karita Antunes Costa, and Laís Yumi Sakano
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business.industry ,Dipyrone ,Stevens johnson ,Human leukocyte antigen ,Eye ,medicine.disease ,Toxic epidermal necrolysis ,Ophthalmology ,Human leukocyte antigen class I ,HLA Antigens ,Case-Control Studies ,Stevens-Johnson Syndrome ,Immunology ,medicine ,Humans ,Brazilian population ,business ,Gene - Published
- 2021
6. Expanding the phenotypic and genotypic spectrum of Bietti crystalline dystrophy
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Ricardo P. Casaroli-Marano, André V Gomes, Fabiana Louise Motta, Caio Henrique Marques Texeira, Juliana Maria Ferraz Sallum, Mariana Matioli da Palma, and Mariana Vallim Salles
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0301 basic medicine ,medicine.medical_specialty ,CYP4V2 protein ,Case Report ,Cristal·lí ,QH426-470 ,genetic testing ,03 medical and health sciences ,0302 clinical medicine ,BIETTI CRYSTALLINE DYSTROPHY ,Ophthalmology ,Genotype ,Genetics ,Malalties hereditàries ,Medicine ,Missense mutation ,Crystalline lens ,Macular hole ,Genetics (clinical) ,Retina ,insertion-deletion mutation ,business.industry ,missense mutation ,Retinal detachment ,medicine.disease ,Phenotype ,eye diseases ,030104 developmental biology ,medicine.anatomical_structure ,bietti crystalline dystrophy ,Severe phenotype ,030221 ophthalmology & optometry ,sense organs ,business ,Genetic diseases - Abstract
The rare form of retinal dystrophy, Bietti crystalline dystrophy, is associated with variations in CYP4V2, a member of the cytochrome P450 family. This study reports patients affected by typical and atypical Bietti crystalline dystrophy, expanding the spectrum of this disease. This is an observational case series of patients with a clinical and molecular diagnosis of Bietti crystalline dystrophy that underwent multimodal imaging. Four unrelated patients are described with two known variants, c.802‐8_810del17insGC and c.518T > G (p.Leu173Trp), and one novel missense variant, c.1169G > T (p.Arg390Leu). The patient with the novel homozygous variant had the most severe phenotype resulting in macular hole formation and retinal detachment in both eyes. To the best of our knowledge, there is no association of these features with Bietti crystalline dystrophy. Patient 1 was the youngest patient and had the mildest phenotype with crystals in the retina without chorioretinal atrophy and visual complaints. Patients 2 and 3 presented with fewer crystals and chorioretinal atrophy. These three patients presented a classic phenotype. The fourth patient presented with an atypical and severe phenotype. This study reveals a new genotype and new phenotype associated with this disorder. Keywords: bietti crystalline dystrophy; CYP4V2 protein; genetic testing; missense mutation; insertion‐deletion mutation
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- 2021
7. Dia das doenças raras e a Oftalmologia
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Juliana Maria Ferraz Sallum, Cecilia Francini Cabral de Vasconcellos, and Mariana Matioli da Palma
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medicine.medical_specialty ,Ophthalmology ,Rare Diseases ,business.industry ,Medicine ,Humans ,General Medicine ,RE1-994 ,business ,Dermatology ,Rare disease - Published
- 2021
8. Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers
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Fion Bremner, Bruna Ferraço Marianelli, Orlando Graziani Povoas Barsottini, João Brainer Clares de Andrade, Wilson Marques-Junior, Paola Giunti, José Luiz Pedroso, Fernando Kok, Flávio Moura Rezende Filho, Marcondes C. França, Juliana Maria Ferraz Sallum, Charles Marques Lourenço, and Michael H Parkinson
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0301 basic medicine ,medicine.medical_specialty ,Ataxia ,Visual acuity ,genetic structures ,Hereditary spastic paraplegia ,Nerve fiber layer ,Retina ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,Ophthalmology ,medicine ,Humans ,Spinocerebellar Ataxias ,Papilledema ,business.industry ,Autosomal recessive cerebellar ataxia ,Retinal ,medicine.disease ,eye diseases ,030104 developmental biology ,medicine.anatomical_structure ,Neurology ,chemistry ,Muscle Spasticity ,Spinocerebellar ataxia ,sense organs ,Neurology (clinical) ,medicine.symptom ,business ,030217 neurology & neurosurgery ,Biomarkers - Abstract
Background Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) causes unique retinal abnormalities, which have not been systematically investigated. Objective To deeply phenotype the retina in ARSACS in order to better understand its pathogenesis and identify potential biomarkers. Methods We evaluated 29 patients with ARSACS, 66 with spinocerebellar ataxia (SCA), 38 with autosomal recessive cerebellar ataxia (ATX), 22 with hereditary spastic paraplegia (SPG), 21 cases of papilledema, and 20 healthy controls (total n = 196 subjects). Participants underwent visual acuity assessment, intraocular pressure measurement, fundoscopy, and macular and peripapillary optical coherence tomography (OCT). Macular layers thicknesses in ARSACS were compared with those of age-matched healthy controls. Ophthalmologists analyzed the scans for abnormal signs in the different patient groups. Linear regression analysis was conducted to look for associations between retinal changes and age, age at onset, disease duration, and Scale for the Assessment and Rating of Ataxia (SARA) scores in ARSACS. Results Only patients with ARSACS exhibited peripapillary retinal striations (82%) on fundoscopy, and their OCT scans revealed foveal hypoplasia (100%), sawtooth appearance (89%), papillomacular fold (86%), and macular microcysts (18%). Average peripapillary retinal nerve fiber layer (pRNFL) was thicker in ARSACS than in SCA, ATX, SPG, and controls; a cut-off of 121 μm was 100% accurate in diagnosing ARSACS. All macular layers were thicker in ARSACS when compared to healthy controls. RNFL thickness in the inferior sector of the macula positively correlated with SARA scores. Conclusions Retinal abnormalities are highly specific for ARSACS, and suggest retinal hyperplasia due to abnormal retinal development. OCT may provide potential biomarkers for future clinical trials. © 2021 International Parkinson and Movement Disorder Society.
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- 2021
9. PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women
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Orlando Graziani Povoas Barsottini, Flávio Moura Rezende Filho, Juliana Maria Ferraz Sallum, Mariana Matioli da Palma, and José Luiz Pedroso
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Genetics ,Mutation ,Heterogeneous group ,Cerebellar ataxia ,business.industry ,medicine.disease_cause ,Visual function ,parasitic diseases ,medicine ,PRPS1 gene ,Neurology (clinical) ,medicine.symptom ,business ,Clinical/Scientific Notes ,Genetics (clinical) ,Retinal Dystrophies - Abstract
Inherited retinal dystrophies (IRD) comprise a heterogeneous group of disorders that affect visual function. IRD occur in isolated forms or in association with systemic abnormalities.1 Over 300 disease-causing genes have been identified in IRD. The authors thank Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) for have funded this study.
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- 2021
10. Ophthalmic genetics in South America
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Federico M Fernández, Carlos E. Prada, Harry Pachajoa, Robert B. Hufnagel, Juliana Lores, Rene Moya, M Eugenia Inga, Malena Daich Varela, Patricio G Schlottmann, Juliana Maria Ferraz Sallum, and Claudia Arberas
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Genetics ,medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,media_common.quotation_subject ,Public health ,Eye Diseases, Hereditary ,South America ,Diagnostic tools ,Public healthcare ,Patient care ,Article ,Scarcity ,Ophthalmology ,Geography ,Health care ,medicine ,Humans ,Precision Medicine ,business ,Genetics (clinical) ,Strengths and weaknesses ,media_common ,Genetic testing - Abstract
South America comprises of heterogeneous topographies, populations, and health care systems. Therefore, it is not surprising to see differences among the countries regarding expertise, education, and practices of ophthalmic genetics for patients with rare eye diseases. Nevertheless, common challenges such as limited genetics training in medical schools and among ophthalmologists, scarcity of diagnostic tools for phenotyping, and expensive genetic testing not covered by the public healthcare systems, are seen in all of them. Here, we provide a detailed report of the current status of ophthalmic genetics, described by the personal views of local ophthalmologists from Brazil, Colombia, Argentina, and Chile. By reporting our strengths and weaknesses as a region, we intend to highlight the need for guidelines on how to manage these patients aligned with public health policies. Our region contributes to research worldwide, with thousands of well diagnosed patients from a number of unique and genetically diverse populations. The constant expansion of ophthalmic genetics and molecular diagnostics requires us to join forces to collaborate across South America and with other countries to improve access to next-generation diagnostics and ultimately improve patient care.
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- 2020
11. Retinitis Pigmentosa Due to Rp1 Biallelic Variants
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Rita Sousa Silva, Mariana Vallim Salles, Fabiana Louise Motta, and Juliana Maria Ferraz Sallum
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0301 basic medicine ,Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Retinal Disorder ,Adolescent ,Epidemiology ,Visual Acuity ,lcsh:Medicine ,Fundus (eye) ,Article ,Retina ,Frameshift mutation ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Retinitis pigmentosa ,Genetics research ,Medicine ,Humans ,Young adult ,Allele ,lcsh:Science ,Eye Proteins ,Alleles ,Retrospective Studies ,Multidisciplinary ,business.industry ,lcsh:R ,Retrospective cohort study ,Middle Aged ,medicine.disease ,Prognosis ,eye diseases ,Pedigree ,Young age ,030104 developmental biology ,Mutation ,030221 ophthalmology & optometry ,lcsh:Q ,Female ,sense organs ,business ,Microtubule-Associated Proteins ,Brazil ,Retinitis Pigmentosa - Abstract
In the present study, we screened 529 Brazilian individuals affected by inherited retinal disorders. A total of seven unrelated and nonsyndromic patients with RP1 biallelic variants (OMIM # 180100) were diagnosed in our centre and included in the study. They had classic retinitis pigmentosa with diagnosis at the first decade of life. The visual acuities were severely affected at a young age. The fundus aspects were similar among all patients. An atrophic ring was present around the fovea in several cases. All patients had molecular diagnosis, with six different RP1 variants. This study reports two new pathogenic variants - two frameshift duplications (c.1234dupA p.Met412Asnfs*7 and c.1265dupC p.Ala423Cysfs*2) and reinforces other four known pathogenic variants – two frameshift deletions (c.469delG p.Val157Trpfs*16 and c.3843delT p.Pro1282Leufs*12) and two stop gain mutations (c.1186 C > T p.Arg396* and c.1625C > G p.Ser542*). These findings broaden the spectrum of RP1 variants. This study also reviewed the fundus characteristics that clinically could raise the hypothesis of a retinitis pigmentosa due to RP1 gene. It is worthwhile to try to identify the disease-causing variants in each patient since it can provide prognostic information and be useful in genetic consultation and diagnosis in the future.
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- 2020
12. Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy
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Fernanda Belga Ottoni Porto, João Bosco Pesquero, Fabiana Louise Motta, Rosane Guazi Resende, Renan Paulo Martin, Elizabeth Wohler, Juliana Maria Ferraz Sallum, and Caio Perez Gomes
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0301 basic medicine ,medicine.medical_specialty ,leber congenital amaurosis (lca) ,lcsh:QH426-470 ,Genetic counseling ,Population ,Genomics ,rpe65 gene ,030105 genetics & heredity ,03 medical and health sciences ,Genetics ,medicine ,Missense mutation ,early-onset retinal dystrophy (eord) ,education ,Genetics (clinical) ,education.field_of_study ,Molecular pathology ,business.industry ,variant of uncertain significance (vus) ,likely pathogenic variant ,lcsh:Genetics ,030104 developmental biology ,RPE65 ,Medical genetics ,business ,Retinal Dystrophies - Abstract
A challenge in molecular diagnosis and genetic counseling is the interpretation of variants of uncertain significance. Proper pathogenicity classification of new variants is important for the conclusion of molecular diagnosis and the medical management of patient treatments. The purpose of this study was to reclassify two RPE65 missense variants, c.247T>, C (p.Phe83Leu) and c.560G>, A (p.Gly187Glu), found in Brazilian families. To achieve this aim, we reviewed the sequencing data of a 224-gene retinopathy panel from 556 patients (513 families) with inherited retinal dystrophies. Five patients with p.Phe83Leu and seven with p.Gly187Glu were selected and their families investigated. To comprehend the pathogenicity of these variants, we evaluated them based on the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) classification guidelines. Initially, these RPE65 variants met only three pathogenic criteria: (i) absence or low frequency in the population, (ii) several missense pathogenic RPE65 variants, and (iii) 15 out of 16 lines of computational evidence supporting them as damaging, which together allowed the variants to be classified as uncertain significance. Two other pieces of evidence were accepted after further analysis of these Brazilian families: (i) p.Phe83Leu and p.Gly187Glu segregate with childhood retinal dystrophy within families, and (ii) their prevalence in Leber congenital amaurosis (LCA)/early-onset retinal dystrophy (EORD) patients can be considered higher than in other inherited retinal dystrophy patients. Therefore, these variants can now be classified as likely pathogenic according to ACMG/AMP classification guidelines.
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- 2019
13. Progressive expansion of the hyperautofluorescent ring in cone-rod dystrophy patients
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Vinicius F. Kniggendorf, Luiz H. Lima, Michel Eid Farah, Claudio Zett, Juliana Maria Ferraz Sallum, Bruna Ferraço Marianelli, and Ricardo A Pontes de Carvalho
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Adult ,Male ,0301 basic medicine ,medicine.medical_specialty ,Visual acuity ,Adolescent ,genetic structures ,Visual Acuity ,Ring (chemistry) ,Retina ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Ophthalmology ,Electroretinography ,medicine ,Humans ,Cone-Rod Dystrophy ,Genetics (clinical) ,Retrospective Studies ,medicine.diagnostic_test ,business.industry ,Optical Imaging ,Dystrophy ,eye diseases ,Fundus autofluorescence ,030104 developmental biology ,medicine.anatomical_structure ,Retinal structure ,Pediatrics, Perinatology and Child Health ,030221 ophthalmology & optometry ,Visual Field Tests ,Female ,sense organs ,Visual Fields ,medicine.symptom ,business ,Cone-Rod Dystrophies ,Tomography, Optical Coherence ,Follow-Up Studies - Abstract
To evaluate the expansion of the hyperautofluorescent ring and the retinal structure changes over time in cone-rod dystrophy (CRD) patients, using fundus autofluorescence (FAF) and spectral-domain optical coherence tomography (SD-OCT).Retrospective case series study. Six eyes of three CRD patients with a parafoveal hyperautofluorescent ring were studied. The diagnosis of CRD was established by the presence of the implicit time shift at 30-Hz flicker and prevalent decrease of photopic over scotopic responses on electroretinography. External and internal ring expansion was evaluated by measurements of its area at baseline and at 24-month follow-up using FAF. SD-OCT analyzed the retinal structure of the ring and the length of devoid ellipsoid zone (EZ) was measured over time.The mean age of study patients was 21 years old and the mean baseline visual acuity was 20/200. The external and internal FAF rings involving the fovea were identified in all study eyes. SD-OCT showed a normal retinal structure outside the ring. At the transitional zone of the ring, disorganization of both EZ and external limiting membrane (ELM) was observed. Inside the hyperautofluorescent ring, EZ and ELM were not identified. At 24-month follow-up examination, the mean % area increase of external and internal rings were 18.32% and 20.42%, respectively, and was concordant with the EZ band defect length enlargement.Progressive expansion of hyperautofluorescent macular ring with a correspondent EZ band defect enlargement was observed over time in CRD patients.
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- 2018
14. Autoimmune retinopathy: A Review
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Juliana Maria Ferraz Sallum, Aristófanes Mendonça Canamary Jr, and Walter Yukihiko Takahashi
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medicine.medical_specialty ,genetic structures ,medicine.medical_treatment ,Disease ,Review ,Fundus (eye) ,Autoimmune retinopathy ,03 medical and health sciences ,Rod cell outer segment ,0302 clinical medicine ,lcsh:Ophthalmology ,Retinal cone photoreceptor cells ,medicine ,Recoverin ,Autoantibodies ,Autoimmune disease ,Retina ,business.industry ,Optic disc pallor ,Autoantibody ,Immunosuppression ,medicine.disease ,Dermatology ,eye diseases ,Ophthalmology ,medicine.anatomical_structure ,lcsh:RE1-994 ,030220 oncology & carcinogenesis ,030221 ophthalmology & optometry ,sense organs ,business - Abstract
Autoimmune retinopathy (AIR) is a rare and still poorly understood immune-mediated disease that may cause inflammation from circulating autoantibodies against the retina. It may be related to history of autoimmune disease in the patient or in a family member or the presence of neoplastic disease in the individual. The disease may be subdivided into paraneoplastic and non-paraneoplastic AIR. When related to melanoma, it is referred to as MAR, and when related to other cancers, it is called CAR. The exact prevalence of AIR is unknown. It mainly affects older adults. Patients present with bilateral and asymmetric scotomas, photopsias, visual field defects, with rapidly progressive visual loss in late onset. In the initial stage, fundus examination is unremarkable, and in late stages, there is limited retinal epitheliopathy and vascular attenuation, with or without optic disc pallor, associated or not with intraocular inflammation and with no evidence of degenerative retinal disease. A clinical investigation with detailed anamnesis and laboratory tests should be performed to search for an associated neoplasm. Ophthalmologic and complementary examinations such as full-field electroretinogram, optical coherence tomography, visual field and fundus autofluorescence, help the diagnosis. Blood tests to search for autoantibodies should be requested. Management consists of prolonged immunosuppression, which may be combined with antioxidant vitamins. In general, the prognosis is uncertain, so the disease still needs to be better understood. More studies should be performed to improve diagnostic measures and define specific management that could preserve or even restore vision.
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- 2018
15. The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene
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Juliana Maria Ferraz Sallum, Michael Larsen, Julie DiStefano-Pappas, Kathleen Z Reape, Sarah McCague, Eric A. Pierce, Emily Place, Mette Bertelsen, Daniel C. Chung, Markus N. Preising, Mark E. Pennesi, Jennifer Wellman, Grace Schaefer, Katherine A. High, Bart P. Leroy, Richard G. Weleber, Okan U. Elci, Birgit Lorenz, Emily Liu, Christian P. Hamel, Paul Yang, Knut Stieger, Rigshospitalet [Copenhagen], Copenhagen University Hospital, Justus-Liebig-Universität Gießen (JLU), Oregon Health and Science University [Portland] (OHSU), Ghent University Hospital, Universiteit Gent = Ghent University [Belgium] (UGENT), Children’s Hospital of Philadelphia (CHOP ), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Escola Paulista de Medicina [São Paulo] (EPM), and Universidade de São Paulo (USP)
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Male ,Internationality ,Visual acuity ,genetic structures ,Visual Acuity ,0302 clinical medicine ,Genotype ,Child ,0303 health sciences ,medicine.diagnostic_test ,Eye Diseases, Hereditary ,3. Good health ,medicine.anatomical_structure ,Child, Preschool ,Population study ,Female ,medicine.symptom ,Tomography, Optical Coherence ,Adult ,cis-trans-Isomerases ,medicine.medical_specialty ,Adolescent ,Article ,Young Adult ,03 medical and health sciences ,Ophthalmology ,Retinal Dystrophies ,Electroretinography ,medicine ,Humans ,Genetic Association Studies ,Retrospective Studies ,030304 developmental biology ,Genetic testing ,Retina ,business.industry ,Fundus photography ,Infant ,eye diseases ,Cross-Sectional Studies ,RPE65 ,Mutation ,030221 ophthalmology & optometry ,Visual Field Tests ,sense organs ,Visual Fields ,business ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology - Abstract
International audience; PURPOSE:To delineate the natural history of visual parameters over time in individuals with biallelic RPE65 mutation-associated inherited retinal dystrophy (IRD); describe the range of causative mutations; determine potential genotype/phenotype relationships; and describe the variety of clinical diagnoses.DESIGN:Global, multicenter, retrospective chart review.METHODS:Study Population: Seventy individuals with biallelic RPE65 mutation-associated IRD.PROCEDURES:Data were extracted from patient charts.MEASUREMENTS:Visual acuity (VA), Goldmann visual field (GVF), optical coherence tomography, color vision testing, light sensitivity testing, and electroretinograms (retinal imaging and fundus photography were collected and analyzed when available).RESULTS:VA decreased with age in a nonlinear, positive-acceleration relationship (P < .001). GVF decreased with age (P < .0001 for both V4e and III4e), with faster GVF decrease for III4e stimulus vs V4e (P = .0114, left eye; P = .0076, right eye). On average, a 1-year increase in age decreased III4e GVF by ∼25 sum total degrees in each eye while V4e GVF decreased by ∼37 sum total degrees in each eye, although individual variability was observed. A total of 78 clinical diagnoses and 56 unique RPE65 mutations were recorded, without discernible RPE65 mutation genotype/phenotype relationships.CONCLUSIONS:The number of clinical diagnoses and lack of a consistent RPE65 mutation-to-phenotype correlation underscore the need for genetic testing. Significant relationships between age and worsening VA and GVF highlight the progressive loss of functional retina over time. These data may have implications for optimal timing of treatment for IRD attributable to biallelic RPE65 mutations.
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- 2019
16. Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia
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Orlando Graziani Povoas Barsottini, José Luiz Pedroso, Júlian Letícia de Freitas, Flávio Moura Rezende Filho, Marcondes C. França, and Juliana Maria Ferraz Sallum
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Pathology ,medicine.medical_specialty ,Eye Diseases ,Hereditary spastic paraplegia ,Nystagmus ,Diagnostic Techniques, Ophthalmological ,03 medical and health sciences ,0302 clinical medicine ,Atrophy ,Cataracts ,medicine ,Spastic ,Humans ,Spinocerebellar Ataxias ,030212 general & internal medicine ,Genetic testing ,Paraplegia ,medicine.diagnostic_test ,Spastic Paraplegia, Hereditary ,business.industry ,medicine.disease ,eye diseases ,nervous system diseases ,Optic Atrophy ,Neurology ,Muscle Spasticity ,Adrenoleukodystrophy ,sense organs ,Neurology (clinical) ,medicine.symptom ,business ,030217 neurology & neurosurgery - Abstract
Ophthalmological abnormalities may occur in specific subtypes of hereditary spastic paraplegia (HSP) and in genetic diseases that present with spastic paraplegia mimicking HSP. These ophthalmological changes may precede the motor symptoms and include pigmentary retinal degeneration, ophthalmoplegia, optic atrophy, cataracts and nystagmus. Some ophthalmological abnormalities are more prevalent in specific forms of HSP. Considering that the diagnosis of HSP is usually difficult and complex, specific ophthalmological changes may guide the genetic testing. There are other genetic diseases such as autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), X-linked adrenoleukodystrophy and spastic paraplegia, optic atrophy and neuropathy (SPOAN) that may mimic HSP and also may present with specific ophthalmological changes. In this article, we review the main ophthalmological changes observed in patients with HSP and HSP-like disorders.
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- 2020
17. Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS
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Orlando Graziani Povoas Barsottini, Flávio Moura Rezende Filho, José Luiz Pedroso, Juliana Maria Ferraz Sallum, Fernando Kok, Roy Poh, Wilson Marques Júnior, Michael H Parkinson, Charles Marques Lourenço, Ingrid Faber, Paola Giunti, and Marcondes Cavalcante França Junior
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0301 basic medicine ,Adult ,Male ,medicine.medical_specialty ,Ataxia ,Adolescent ,Nerve fiber layer ,Neuroimaging ,Corpus callosum ,03 medical and health sciences ,0302 clinical medicine ,Atrophy ,Ophthalmology ,medicine ,Humans ,Spinocerebellar Ataxias ,Spasticity ,business.industry ,Sequence Analysis, DNA ,Middle Aged ,medicine.disease ,Magnetic Resonance Imaging ,030104 developmental biology ,medicine.anatomical_structure ,Peripheral neuropathy ,Neurology ,Muscle Spasticity ,Cerebellar atrophy ,Female ,sense organs ,Neurology (clinical) ,Geriatrics and Gerontology ,medicine.symptom ,business ,030217 neurology & neurosurgery ,Brazil ,Tomography, Optical Coherence ,Retinal Neurons - Abstract
Background Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an important form of inherited ataxia with a varied clinical spectrum. Detailed studies of phenotype and genotype are necessary to improve diagnosis and elucidate this disorder pathogenesis. OBJECTIVE AND METHODS: To investigate the clinical phenotype, retinal architecture, neuroimaging features and genetic profile of Brazilian patients with ARSACS, we performed neurological and ophthalmological evaluation in thirteen Brazilian patients with molecularly confirmed ARSACS, and examined their mutation profiles. Optical coherence tomography protocol (OCT) consisted in peripapillary retinal nerve fiber layer (RNFL) measurement and qualitative analysis of perifoveal scans. Neuroimaging protocol accessed the frequency of atrophy in cerebellum, corpus callosum and parietal lobe, brainstem signal abnormalities, and posterior fossa arachnoid cysts. We reviewed the literature to delineate the ARSACS phenotype in the largest series worldwide. RESULTS: All patients had ataxia and spasticity, and 11/13 had peripheral neuropathy. Macular microcysts were present in two patients. Peripapillary striations, dentate appearance of inner retina and papillomacular fold were found in eleven cases. All individuals exhibited thickening of RNFL in OCT. The most frequent radiological signs were cerebellar atrophy (13/13), biparietal atrophy (12/13), and linear pontine hypointensities (13/13). Genetic analysis revealed 14 different SACS variants, of which two are novel. CONCLUSION: Macular microcysts, inner retina dentate appearance and papillomacular fold are novel retinal imaging signs of ARSACS. Ophthalmological and neuroimaging changes are common findings in Brazilian patients. The core clinical features of ARSACS are ataxia, spasticity and peripheral neuropathy with onset predominantly in the first decade of life.
- Published
- 2018
18. Relative frequency of inherited retinal dystrophies in Brazil
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Juliana Maria Ferraz Sallum, Mariana Vallim Salles, Renan Paulo Martin, Rafael Filippelli-Silva, and Fabiana Louise Motta
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0301 basic medicine ,Pediatrics ,Leber Congenital Amaurosis ,ABCA4 ,Cell Cycle Proteins ,Macular Degeneration ,Prevalence ,Outpatient clinic ,Stargardt Disease ,education.field_of_study ,Multidisciplinary ,CRB1 ,medicine.diagnostic_test ,biology ,Neoplasm Proteins ,Brazilian Public Health System ,Medicine ,Stargardt's Disease (STGD) ,Retinal Dystrophies ,Brazil ,Retinitis Pigmentosa ,medicine.medical_specialty ,Science ,Population ,Nerve Tissue Proteins ,Article ,03 medical and health sciences ,Antigens, Neoplasm ,Retinitis pigmentosa ,medicine ,Humans ,Genetic Testing ,education ,Eye Proteins ,Bietti Crystalline Dystrophy ,Genetic testing ,Adaptor Proteins, Signal Transducing ,Retrospective Studies ,Polymorphism, Genetic ,business.industry ,Inherited Retinal Dystrophies (IRDs) ,Membrane Proteins ,medicine.disease ,Stargardt disease ,Cytoskeletal Proteins ,030104 developmental biology ,biology.protein ,ATP-Binding Cassette Transporters ,business - Abstract
Among the Brazilian population, the frequency rates of inherited retinal dystrophies and their causative genes are underreported. To increase the knowledge about these dystrophies in our population, we retrospectively studied the medical records of 1,246 Brazilian patients with hereditary retinopathies during 20 years of specialized outpatient clinic care. Of these patients, 559 had undergone at least one genetic test. In this cohort, the most prevalent dystrophies were non-syndromic retinitis pigmentosa (35%), Stargardt disease (21%), Leber congenital amaurosis (9%), and syndromic inherited retinal dystrophies (12%). Most patients had never undergone genetic testing (55%), and among the individuals with molecular test results, 28.4% had negative or inconclusive results compared to 71.6% with a conclusive molecular diagnosis. ABCA4 was the most frequent disease-causing gene, accounting for 20% of the positive cases. Pathogenic variants also occurred frequently in the CEP290, USH2A, CRB1, RPGR, and CHM genes. The relative frequency rates of different inherited retinal dystrophies in Brazil are similar to those found globally. Although mutations in more than 250 genes lead to hereditary retinopathies, only 66 genes were responsible for 70% of the cases, which indicated that smaller and cheaper gene panels can be just as effective and provide more affordable solutions for implementation by the Brazilian public health system.
- Published
- 2018
19. Exfoliation syndrome associated with LOXL1 gene polymorphisms in a Black patient from Latin America: a case report
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Alexandre Gomes Bortoloti de Azevedo, Sergio H. Teixeira, Guilherme Eiichi da Silva Takitani, Roberto M Vessani, Fabiana Louise Motta, and Juliana Maria Ferraz Sallum
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medicine.medical_specialty ,Visual acuity ,genetic structures ,Glaucoma ,Single-nucleotide polymorphism ,Fundus (eye) ,lcsh:Ophthalmology ,Ophthalmology ,Gonioscopy ,Medicine ,Iris (anatomy) ,Exfoliation (botany) ,medicine.diagnostic_test ,Grupo com ancestrais do continente africano ,business.industry ,Brasil ,Pseudoexfoliation ,Síndrome de exfoliação ,Gene LOXL-1 ,General Medicine ,medicine.disease ,eye diseases ,medicine.anatomical_structure ,lcsh:RE1-994 ,medicine.symptom ,business - Abstract
A 89-year-old Black female with a 6-year history of advanced open-angle glaucoma was referred to the Glaucoma Service of the Ophthalmology Department - Federal University of Sao Paulo (UNIFESP). Best-corrected visual acuity was 20/400 in the right eye and 20/60 in the left eye. Pseudoexfoliation material was observed at the iris border, angle, and the anterior lens surface. Anterior biomicroscopy revealed exfoliation material forming an evident peripheral zone and a central disc separated by a clear intermediate zone on the anterior lens surface OU. Gonioscopy showed an open-angle Sampaolesis’s line and whitish material deposits OU. Fundus examination revealed a cup-to-disc ratio of 1.0 OU with peripapillary atrophy. Genetic analysis for single nucleotide polymorphisms of the lysyl oxidase-like 1 gene linked to exfoliation syndrome identified two such single nucleotide polymorphisms, rs1048661 and rs216524.
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- 2018
20. Septo-optic dysplasia with late-onset seizure: MRI and ophthalmological features
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Leandro Tavares Lucato, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Flávio Moura Rezende Filho, Juliana Maria Ferraz Sallum, and Júlian Letícia de Freitas
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Adult ,Male ,medicine.medical_specialty ,business.industry ,Septo-optic dysplasia ,Late onset ,medicine.disease ,Magnetic Resonance Imaging ,Late Onset Disorders ,lcsh:RC321-571 ,Neurology ,Septo-Optic Dysplasia ,Seizures ,medicine ,Humans ,Neurology (clinical) ,Radiology ,business ,lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry ,Tomography, Optical Coherence - Published
- 2019
21. Vision-related quality of life in children with retinopathy of prematurity
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Kelsy Catherina Nema Areco, Alcione Aparecida Messa, Ricardo Belfort Mattos, and Juliana Maria Ferraz Sallum
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Male ,Pediatrics ,genetic structures ,Cross-sectional study ,Disease ,lcsh:Ophthalmology ,Surveys and Questionnaires ,Psychology ,Medicine ,Prospective Studies ,Parent-Child Relations ,Young adult ,Child ,Low vision ,Prospective cohort study ,media_common ,Retinopathy of prematurity ,General Medicine ,Middle Aged ,Baixa visão ,Female ,Infant, Premature ,Quality of life ,Adult ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,media_common.quotation_subject ,Criança ,Qualidade de vida ,Young Adult ,Humans ,Personality ,Retinopatia da prematuridade ,Retinopathy of Prematurity ,business.industry ,Infant, Newborn ,Case-control study ,Infant ,medicine.disease ,eye diseases ,Ophthalmology ,Cross-Sectional Studies ,Psicologia ,Socioeconomic Factors ,lcsh:RE1-994 ,Case-Control Studies ,Quality of Life ,Observational study ,sense organs ,business - Abstract
Purpose:To evaluate the effect of retinopathy of prematurity (ROP) on vision-related quality of life in children.Methods:The Children's Visual Function Questionnaire (CVFQ), an instrument that evaluates vision-related quality of life in children, was used. It is divided into 6 subscales: General Health, Vision Health, Competence, Personality, Family Impact, and Treatment. The sample consisted of parents of premature children up to 3 years of age who had ROP and no neurological damage (ROP group) and parents of premature children up to 3 years of age who had normal vision and absence of other diseases (control group).Results:There were 88 subjects in total, 43 in the ROP group and 45 in the control group. The ROP group had lower scores on the CVFQ than the control group. The Total Index and all CVFQ subscale scores and for were significant lower in the ROP group than in the control group. The ROP group was divided according to the severity of the disease. The Total Index, Vision Health, and Competence scores in children with more severe ROP were significantly lower than those in children with less severe ROP.Conclusion:ROP was shown to have a negative effect on vision-related quality of life in children.
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- 2015
22. Human Leukocyte Antigen Class I Genes Associated With Stevens-Johnson Syndrome and Severe Ocular Complications Following Use of Cold Medicine in a Brazilian Population
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Chie Sotozono, José Arthur Milhomens, José Álvaro Pereira Gomes, Karita Antunes Costa, Renata Ruoco Loureiro, Mayumi Ueta, Tais Hitomi Wakamatsu, Chikara Inoue, Yukinori Okada, Katsushi Tokunaga, Shigeru Kinoshita, and Juliana Maria Ferraz Sallum
- Subjects
Adult ,Genetic Markers ,Male ,Multi-Ingredient Cold, Flu, and Allergy Medications ,0301 basic medicine ,medicine.medical_specialty ,Adolescent ,Genotyping Techniques ,HLA-C Antigens ,Human leukocyte antigen ,Polymerase Chain Reaction ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,medicine ,HLA-B Antigens ,Genetic predisposition ,Humans ,Child ,Alleles ,Aged ,Original Investigation ,HLA-A Antigens ,business.industry ,Case-control study ,Odds ratio ,Middle Aged ,medicine.disease ,Healthy Volunteers ,Toxic epidermal necrolysis ,Ophthalmology ,030104 developmental biology ,Genetic marker ,Case-Control Studies ,Stevens-Johnson Syndrome ,Immunology ,Cohort ,030221 ophthalmology & optometry ,Dry Eye Syndromes ,Female ,business ,Brazil - Abstract
Ministry of Education, Culture, Sports, Science and Technology of the Japanese government Japan Society for the Promotion of Science Core-to-Core Program Advanced Research Networks Japanese Ministry of Health, Labor and Welfare Kyoto Foundation for the Promotion of Medical Science and the Intramural Research Fund of Kyoto Prefectural University of Medicine Ministry of Education, Brazil-Japan Fundacao de Amparo a Pesquisa do Estado de Sao Paulo IMPORTANCE Describing the association with human leukocyte antigen (HLA) alleles could facilitate the understanding of increased risk factors for development of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) in patients with severe ocular complications (SOCs). OBJECTIVE To investigate the association between HLA class I genes and cold medicine (CM)-associated SJS/TEN with SOCs. DESIGN, SETTING, AND PARTICIPANTS This case-control studywas conducted between February 8, 2013, and August 29, 2014. Thirty-nine Brazilian patients with CM-SJS/TEN of 74 patients with SJS/TEN with SOCs and 133 healthy Brazilian volunteers were enrolled. Human leukocyte antigen class I genes (HLA-A, HLA-B, and HLA-C) were examined to determine whether there was a genetic predisposition for CM-SJS/TEN with SOC. Patients were interviewed to identify possible etiologic factors. Data analysis was performed from April 14, 2013, to August 29, 2014. MAIN OUTCOMES AND MEASURES Genetic predisposition for CM-SJS/TEN with SOCs by analysis of HLA class I genes. RESULTS Of 74 patients included in the analysis, 32 (43%) were male mean (SD) age was 36.01 [15.42] years. HLA-A*66: 01 (odds ratio [OR], 24.0 95% CI, 2.79-206.0 P < 001), HLA-B*44: 03 (OR, 2.71 95% CI, 1.11-6.65 P = 04), and HLA-C*12: 03 (OR, 5.6 95% CI, 1.67-18.80 P = 006) were associated with Brazilian CM-SJS/TEN with SOCs, and HLA-A*11: 01 (OR, 0.074 95% CI, 0.004-1.26 P = 008), HLA-B*08: 01 (OR, 0.15 95% CI, 0.02-1.15 P = 048), and HLA-B*51: 01 (OR, 0.23 95% CI, 0.05-1.03 P = 045) were inversely associated with Brazilian CM-SJS/TEN with SOCs (39 cases: 19 Pardo and 16 European ancestry 14 males and 25 females age, 35.2 [14.4] years and 133 controls: 66 Pardo and 61 European ancestry 55 males and 78 females age, 41.2 [12.9] years). When multiple test correction within the HLA locus, HLA-A*66: 01 and HLA-C*12: 03 demonstrated associations. When participants were segregated into Pardo and locus is considered, HLA-A*66: 01 was associated with CM-SJS/TEN with SOC among individuals of both ethnic groups (Pardo: OR, 12.2 95% CI, 1.19-125.0 P = 03 and European: OR, 21.2 95% CI, 0.97-465.0 P = 04). An association was observed only in the European cohort for HLA-B*44: 03 (OR, 5.50 95% CI, 1.47-20.50 P = 01) and HLA-C*12: 03 (OR, 8.79 95% CI, 1.83-42.20 P = 008). CONCLUSIONS AND RELEVANCE This study suggests that HLA-A*66: 01 might be a marker for CM-SJS/TEN with SOCs in Brazilian individuals of Pardo and European ancestry and that HLA-B*44: 03 and HLA-C*12: 03 might be markers only in those of European ancestry. Moreover, HLA-A*11: 01 might be a marker of resistance to CM-SJS/TEN with SOCs. Univ Fed Sao Paulo, Dept Ophthalmol, Sao Paulo, Brazil Prefectural Univ Med, Dept Frontier Med Sci & Technol Ophthalmol, Kyoto, Japan Univ Tokyo, Grad Sch Med, Dept Human Genet, Tokyo, Japan Osaka Univ, Dept Stat Genet, Osaka, Japan RIKEN, Lab Stat Anal, Ctr Integrat Med Sci, Yokohama, Kanagawa, Japan Kyoto Prefectural Univ Med, Dept Ophthalmol, Kyoto, Japan Univ Fed Sao Paulo, Dept Ophthalmol, Sao Paulo, Brazil Web of Science
- Published
- 2017
23. Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial
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Janine D. Mendola, Ava K Bittner, L. Ingeborgh van den Born, Anneke I. den Hollander, Ruifang Sui, Robert K. Koenekoop, Gislin Dagnelie, David A. Saperstein, Ronald A. Schuchard, Radwan Ajlan, Ayesha Khan, Frans P.M. Cremers, and Juliana Maria Ferraz Sallum
- Subjects
Adult ,cis-trans-Isomerases ,Retinal degeneration ,Retinyl Esters ,medicine.medical_specialty ,Visual acuity ,Adolescent ,genetic structures ,Photophobia ,Leber Congenital Amaurosis ,Visual Acuity ,Administration, Oral ,Blindness ,Young Adult ,chemistry.chemical_compound ,Ophthalmology ,medicine ,Humans ,Prospective Studies ,Child ,Vitamin A ,Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12] ,Prospective cohort study ,business.industry ,Childhood blindness ,Retinal ,General Medicine ,medicine.disease ,eye diseases ,RPE65 ,chemistry ,Mutation ,Diterpenes ,medicine.symptom ,Headaches ,business ,Acyltransferases - Abstract
Item does not contain fulltext BACKGROUND: Leber congenital amaurosis, caused by mutations in RPE65 and LRAT, is a severe form of inherited retinal degeneration leading to blindness. We aimed to assess replacement of the missing chromophore 11-cis retinal with oral QLT091001 (synthetic 9-cis-retinyl acetate) in these patients. METHODS: In our open-label, prospective, phase 1b trial, we enrolled patients (aged >/=6 years) with Leber congenital amaurosis and RPE65 or LRAT mutations at McGill University's Montreal Children's Hospital. Patients received 7 days of oral QLT091001 (10-40 mg/m(2) per day). We assessed patients at baseline and days 7, 9, 14, and 30, and then 2 months and every 2 months thereafter for up to 2.2 years for safety outcomes and visual function endpoints including Goldmann visual fields (GVF), visual acuity, and functional MRI assessment. We regarded patients as having an improvement in vision if we noted at least a 20% improvement in retinal area on GVF compared with baseline or a visual acuity improvement of five or more letters compared with baseline in two consecutive study visits (or any improvement from no vision at baseline). This study is registered with ClinicalTrials.gov, number NCT01014052. FINDINGS: Between December, 2009, and June, 2011, we enrolled and treated 14 patients aged 6-38 years who were followed up until March, 2012. Ten (71%) of 14 patients had an improvement in GVF areas (mean increase in retinal area of 28-683%). Six (43%) patients had an improvement in visual acuity (mean increase of 2-30 letters). Self-reported or parent-reported improvements in activities of daily living supported these findings. After 2 years, 11 (79%) patients had returned to their baseline GVF retinal area and ten (71%) had returned to baseline visual acuity letter values. Thus, three (21%) patients had a sustained GVF response and four (30%) had a sustained visual acuity response. Four patients had functional MRI scans, which correlated with visual response or absence of response to treatment. No serious adverse events occurred, although we noted transient headaches (11 patients), photophobia (11 patients), reduction in serum HDL concentrations (four patients), and increases in serum triglycerides (eight patients) and aspartate aminotransferase concentrations (two patients). INTERPRETATION: Non-invasive oral QLT091001 therapy is well tolerated, and can rapidly improve visual function in some patients with Leber congenital amaurosis and RPE65 and LRAT mutations. FUNDING: QLT, Foundation Fighting Blindness Canada, CIHR, FRSQ, Reseau Vision.
- Published
- 2014
24. Retinal function in patients treated with tamoxifen
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Luiz Henrique Gebrim, Adriana Berezovsky, Sung Eun Song Watanabe, Paula Yuri Sacai, Josenilson Martins Pereira, Marcia Motono, Solange Rios Salomão, and Juliana Maria Ferraz Sallum
- Subjects
Adult ,medicine.medical_specialty ,Pathology ,Antineoplastic Agents, Hormonal ,Eye Diseases ,genetic structures ,Urology ,Breast Neoplasms ,Retina ,Breast cancer ,Physiology (medical) ,Electroretinography ,medicine ,Humans ,skin and connective tissue diseases ,Aged ,Retrospective Studies ,medicine.diagnostic_test ,business.industry ,Cancer ,Middle Aged ,medicine.disease ,Antiestrogen ,Sensory Systems ,Tamoxifen ,Ophthalmology ,Selective estrogen receptor modulator ,Female ,Breast disease ,business ,Erg ,medicine.drug - Abstract
Tamoxifen, an effective treatment of breast cancer, has been shown to cause ocular toxic effects. The purpose of this study was to determine retinal toxicity by full-field and focal electroretinograms (ERGs) in patients treated with tamoxifen. Fullfield and focal ERGs were obtained from three groups: Tamoxifen-14 females (47-72 years, mean 58.3 + or - 9.1) with normal fundus, treated with tamoxifen from 2 to 37 months; No Treatment-10 females (39-65 years, mean 50.1 + or - 8.7) with previous breast cancer diagnosis and before tamoxifen treatment; Control-13 normal female volunteers (41-81 years, mean 52.7 + or - 12.1). Peak-to-peak amplitude and b-wave implicit time were measured and statistically analyzed.Mean peak-to-peak amplitudes and implicit time from full-field and focal ERGs were comparable for the three different groups. Low-dosage tamoxifen showed no retinotoxic effect assessed by full-field and focal ERG in this small group of women with breast cancer.
- Published
- 2009
25. Ocular coherence tomography in age-related macular degeneration patients treated with photodynamic therapy with vertepofirin
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Tércio Guia, Daniela Calucci, Arnaldo Furman Bordon, Juliana Maria Ferraz Sallum, Michel Eid Farah, and Akioshi Oshima
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medicine.medical_specialty ,Photosensitizing ,Visual acuity ,genetic structures ,Tomography, optical coherence ,Fotoquimioterapia ,Foveal thickness ,Foveal ,Age effect ,Ophthalmology ,Degeneração macular ,medicine ,Statistical analysis ,In patient ,medicine.diagnostic_test ,business.industry ,Macular degeneration ,General Medicine ,medicine.disease ,Fluorescein angiography ,eye diseases ,Agentes fotossensibilizantes ,Photochemotherapy ,Tomografia de coerência óptica ,Optometry ,sense organs ,Thickening ,medicine.symptom ,Efeito idade ,business - Abstract
OBJETIVO: Identificar os achados na tomografia de coerência óptica (OCT) e suas variações ao longo de 12 meses, em pacientes portadores de degeneração macular relacionada à idade (DRMI), submetidos à terapia fotodinâmica com verteporfina (TFD). DESENHO DO ESTUDO: Série de casos, aberto, não aleatório e intervencionista. MÉTODOS: Pacientes acima de 50 anos, portadores de DMRI neovascular foram submetidos ao exame oftalmológico completo, angiofluoresceinografia e OCT antes do início do tratamento (V0) e 3, 6, 9 e 12 meses após (V3, V6, V9 e V12, respectivamente). O tratamento empregado foi a TFD. A acuidade visual (AV) foi mensurada usando-se a tabela do ETDRS. Realizaram-se as medições das espessuras foveais: espessura intraretiniana foveal (FIRT), espessura foveal do complexo coriocapilar - EPR (FCC-EPRT) e espessura foveal total (TFT). Realizaram-se as mensurações das espessuras extrafoveais, em um raio de 1500 µ da fóvea: espessura intraretiniana extrafoveal (EFIRT), espessura extrafoveal do complexo coriocapilar - EPR (EFCC-EPRT) e espessura extrafoveal total (TEFT). Análise estatística foi realizada usando-se a análise de variância em blocos. RESULTADOS: Vinte e três olhos de 23 pacientes foram avaliados. Foram identificados nove achados à OCT: 1º) espessamento das camadas intraretinianas na fóvea; 2º) espessamento das camadas intraretinianas na região extrafoveal; 3º) espessamento do complexo coriocapilar-EPR (FCC-EPRT) na fóvea; 4º) espessamento do complexo coriocapilar-EPR na área extrafoveal; 5º) presença de fluido sub-EPR; 6º) presença de fluido sub-retiniano; 7º) presença de fluido intraretiniano; 8º) presença da membrana hialóide posterior aderida à retina; 9º) presença da depressão foveal. Na visita inicial a FIRT e a TFT foram respectivamente 398,5 µ e 639,2 µ. Em V12 foram 173,7 µ e 423,9 µ. A variação foi estatisticamente significante (p = 0,008 e p = 0,003, respectivamente). As outras espessuras mensuradas não tiveram variação estatisticamente significante. A depressão foveal estava presente em 36,4% dos olhos na visita inicial e em 78,3% em V12. O fluido sub-retiniano estava presente em 36,4% em V0 e em 8,7% em V12. A AV na visita inicial foi 0,93 e na visita final foi 1,04 (p = 0,127). CONCLUSÕES: A AV permaneceu inalterada ao longo do estudo. A depressão foveal estava presente em 78,3% dos olhos em V12. A diminuição da FIRT e da TFT foi estatisticamente significante entre V0 e V12. PURPOSE: To identify the optical coherence tomography (OCT) findings in patients with age-related macular degeneration (ARMD) treated with photodynamic therapy (PDT). STUDY DESIGN: Open, non-randomized, interventional case series. METHODS: ARMD patients were submitted to a complete ophthalmological examination, fluorescein angiography, and OCT at baseline (V0), 3, 6, 9 and 12 months (V3, V6, V9 and V12, respectively). PDT was carried out according to the TAP study. Visual acuity (VA) was measured using the logMAR ETDRS chart. The following foveal measurements were performed: foveal intraretinal thickness (FIRT), foveal choriocapillaris - RPE complex thickness (FCC-RPET) and total foveal thickness (TFT). The extrafoveal thicknesses measured were: extrafoveal intraretinal thickness (EFIRT), extrafoveal choriocapillaris - RPE complex thickness (EFCC-RPET) and total extrafoveal thickness (TEFT). Statistical analysis was performed using the block variance analysis test. RESULTS: Twenty-three eyes of 23 patients were enrolled. This study identified nine OCT patterns: 1) thickening of the foveal intraretinal layers; 2) thickening of the extrafoveal intraretinal layers; 3) thickening of the foveal choriocapillaris - RPE complex; 4) thickening of the extrafoveal choriocapillaris - RPE complex; 5) intraretinal fluid; 6) subretinal fluid; 7) subretinal pigment epithelium (RPE) fluid; 8) vitreo-retinal adhesion; 9) foveal depression. At baseline, FIRT and TFT were 398.5 µ and 639.2 µ, respectively. At V12 they were 173.7 µ e 423.9 µ, respectively, and this change was statistical significant (p=0.008 e p=0.003, respectively). The variation of the other foveal and extrafoveal measurements were not statistically significant. Foveal depression was present at baseline in 36.4% of the eyes, whereas at V12 it was present in 78.3%. Subretinal fluid was present in 36.4% of eyes at V0 and in 8.7% at V12. VA at baseline was 0.93 and it V12 was 1.04 (p=0,127). CONCLUSIONS: Visual acuity was stable throughout the study. Foveal depression was reestablished in 78.3% at V12. FIRT and TFT decreased at a statistical significant level, from V0 to V12.
- Published
- 2008
26. Avaliação da autofluorescência do fundo de olho nas distrofias de retina com o aparelho Heidelberg Retina Angiograph2
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Monique Côco, Juliana Maria Ferraz Sallum, Natalia Tamie Baba, and Universidade Federal de São Paulo (UNIFESP)
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Fluorescein angiography ,medicine.medical_specialty ,genetic structures ,Epitélio pigmentado ocular ,Angiofluoresceinografia ,Lipofuscin ,chemistry.chemical_compound ,Cone dystrophy ,Ophthalmology ,Retinitis pigmentosa ,medicine ,Pigment epithelium of eye ,Eye diseases ,Retina ,medicine.diagnostic_test ,business.industry ,Oftalmopatias hereditárias ,Retinal ,General Medicine ,Lipofuscina ,Macular dystrophy ,medicine.disease ,Retinal diseases ,eye diseases ,Autofluorescence ,Hereditary ,medicine.anatomical_structure ,Doenças retinianas ,chemistry ,sense organs ,business - Abstract
OBJETIVOS: Definir características do exame de autofluorescência, verificando sua utilidade no diagnóstico e acompanhamento de distrofias retinianas. MÉTODOS: Participaram do estudo, 28 pacientes, adultos, divididos igualmente em quatro grupos com diagnósticos de doença de Stargardt, distrofia de Cones, retinose pigmentar e voluntários saudáveis para estabelecimento do padrão de normalidade. Em média foram obtidas nove imagens com o filtro para angiofluoresceinografia para a formação da imagem autofluorescente no Heidelberg Retina Angiograph2. As imagens de cada grupo de pacientes foram analisadas para verificar características comuns. RESULTADOS: As imagens fundoscópicas autofluorescentes dos voluntários do grupo controle mostraram área foveal hipoautofluorescente em relação à retina do pólo posterior. As imagens dos portadores de doença de Stargardt, em geral, apresentaram lesão hipoautofluorescente, correspondendo à área macular. As principais alterações da autofluorescência em pacientes com distrofia de cones foram hipoautofluorescência macular com halo hiperautofluorescente. Nos portadores de retinose pigmentar, foram encontrados pigmentos periféricos causando hipoautofluorescência. Na região macular, hipoautofluorescência ou apenas desorganização do pigmento. CONCLUSÃO: O estudo mostrou a existência de padrões de autofluorescência de fundo nas distrofias de retina que permitem o diagnóstico e melhor interpretação da fisiopatogenia destas doenças. PURPOSE: To define characteristics of the fundus autofluorescence examination, verifying usefulness in the diagnosis and care of hereditary retinal diseases. METHODS: 28 patients, adults, divided equally into four groups with diagnoses of Stargardt macular dystrophy, cone dystrophy, retinitis pigmentosa and healthy volunteers for the establishment of the normality pattern. An average of nine images with the filter for fluorescein angiography was obtained for the formation of the image autofluorescence using Heidelberg Retina Angiograph2. The images of each group of patients were analyzed to verify common characteristics. RESULTS: The fundus autofluorescence of healthy volunteers showed the foveal area darker than the surrounding retina. The images of Stargardt macular dystrophy, in general, presented an oval central lesion, with reduced autofluorescence. The main alterations of the autofluorescence in patients with cone dystrophy were reduced foveal autofluorescence with a parafoveal ring of increased autofluorescence. In general, the images of retinitis pigmentosa showed outlying pigments with reduced autofluorescence, and of the foveal area, in some cases disorganization or reduced autofluorescence. CONCLUSION: The study showed the existence of patterns of fundus autofluorescence in the hereditary retinal diseases that allow the diagnosis and better interpretation of the pathogenesis of these diseases. Universidade Federal de São Paulo (UNIFESP) curso de Tecnologia Oftálmica Universidade Federal de São Paulo (UNIFESP) Departamento de Oftalmologia Setor de Retina e Vítreo Universidade Federal de São Paulo (UNIFESP) Departamento de Oftalmologia UNIFESP, curso de Tecnologia Oftálmica UNIFESP, Depto. de Oftalmologia Setor de Retina e Vítreo UNIFESP, Depto. de Oftalmologia SciELO
- Published
- 2007
27. Association of optic atrophy and type 1 diabetes: clinical hallmarks for the diagnosis of Wolfram syndrome
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Acary Souza Bulle Oliveira, Fernando Kok, Juliana Maria Ferraz Sallum, José Luiz Pedroso, Leandro Tavares Lucato, and Orlando Graziani Povoas Barsottini
- Subjects
Adult ,Pathology ,medicine.medical_specialty ,Type 1 diabetes ,genetic structures ,Wolfram syndrome ,business.industry ,Wolfram Syndrome ,medicine.disease ,Magnetic Resonance Imaging ,eye diseases ,lcsh:RC321-571 ,Ophthalmoscopy ,Optic Atrophy ,Atrophy ,Diabetes Mellitus, Type 1 ,Neurology ,medicine ,Humans ,Female ,sense organs ,Neurology (clinical) ,business ,lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry ,Tomography, Optical Coherence - Published
- 2014
28. Spectral-Domain Optical Coherence Tomography for Macular Edema
- Author
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Emmerson Badaró, Juliana Maria Ferraz Sallum, Eduardo A. Novais, and Larissa Maria Prodocimo
- Subjects
Male ,genetic structures ,lcsh:Medicine ,Review Article ,lcsh:Technology ,General Biochemistry, Genetics and Molecular Biology ,Macular Edema ,chemistry.chemical_compound ,Macular Degeneration ,Optical coherence tomography ,Retinal Vein Occlusion ,Medicine ,Humans ,Computer vision ,lcsh:Science ,Macular edema ,Image resolution ,General Environmental Science ,Retina ,medicine.diagnostic_test ,business.industry ,lcsh:T ,lcsh:R ,Retinal ,General Medicine ,Macular degeneration ,medicine.disease ,eye diseases ,medicine.anatomical_structure ,chemistry ,Female ,lcsh:Q ,Artificial intelligence ,Tomography ,sense organs ,business ,Preclinical imaging ,Tomography, Optical Coherence ,Biomedical engineering - Abstract
Optical coherence tomography (OCT) is a rapid noncontact method that allows in vivo imaging of the retina and it has become an important component in clinical practice. OCT is a useful ancillary tool for assessing retinal diseases because of its ability to provide cross-sectional retinal images and quantitatively analyze retinal morphology. The introduction of spectral-domain OCT provided major improvements in image acquisition speed and image resolution. Future studies will address how these major technologic advances will impact the use of OCT in research and clinical practice.
- Published
- 2014
29. Anomalias oculares em pacientes portadores de deficiência auditiva genética
- Author
-
Decio Brunoni, Silvia Bragagnolo Longhitano, Jane Chen, and Juliana Maria Ferraz Sallum
- Subjects
Ophthalmology ,Pediatrics ,medicine.medical_specialty ,business.industry ,Visual assessment ,otorhinolaryngologic diseases ,medicine ,Etiology ,Deficiência auditiva genética ,In patient ,General Medicine ,business ,Anomalias oculares - Abstract
Introdução: Para se verificar a prevalência de anomalias oculares em indivíduos portadores de deficiência auditiva de causa genética definitiva ou suspeita, este trabalho apresenta a avaliação oftalmológica de 97 indivíduos portadores de deficiência auditiva. Pacientes e Métodos: 97 indivíduos com diagnóstico definitivo ou suspeito de causa genética para disacusia foram submetidos a exame clínico oftalmológico completo; destes, 10 foram excluídos. Resultados: 42 (48,28%) dos pacientes apresentaram uma ou mais anomalias oculares, 22 (25,29%) pacientes apresentaram várias anormalidades oculares e quadro clínico compatíveis com síndromes genéticas estabelecidas. Conclusões: O exame oftalmológico é importante no diagnóstico sindrômico e etiológico de alguns quadros de disacusia, pois as alterações oculares podem ser a única anomalia associada à mesma.
- Published
- 2000
30. Association of age and macular pigment optical density using dual-wavelength autofluorescence imaging
- Author
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L. Spielberg, Richard B Rosen, Syril Dorairaj, Tiago S. Prata, Verônica Castro Lima, Mauricio Maia, and Juliana Maria Ferraz Sallum
- Subjects
medicine.medical_specialty ,genetic structures ,business.industry ,Healthy subjects ,association ,Clinical Ophthalmology ,Optical density ,Macular degeneration ,medicine.disease ,eye diseases ,Ophthalmology ,Autofluorescence ,age ,Foveal ,dual-wavelength autofluorescence imaging ,Macular Pigment ,Medicine ,Dual wavelength ,sense organs ,macular pigment optical density ,business ,Ocular disease ,Original Research - Abstract
Verônica Castro Lima,1,2 Richard B Rosen,1,3 Tiago Santos Prata,2 Syril Dorairaj,4 Leigh Spielberg,1 Mauricio Maia,2 Juliana M Sallum21Retina Service, Department of Ophthalmology, The New York Eye and Ear Infirmary, New York, NY, 2Department of Ophthalmology, Federal University of São Paulo, São Paulo, Brazil; 3New York Medical College, New York, NY, 4Department of Ophthalmology, Mayo Clinic, Jacksonville, FL, USABackground: Several lines of evidence suggest that macular pigment may play a protective role against age-related macular degeneration, but the influence of age on macular pigment density levels remains unclear. This study was designed to investigate the relationship between age and the normal distribution of macular pigment optical density (MPOD) values surrounding the fovea.Methods: Consecutive healthy subjects with no evidence of ocular disease were enrolled in this study. After inclusion, MPOD values were measured at specific eccentricities (0.5, 1, and 2 degrees) from the foveal center using a dual-wavelength autofluorescence method employing a modified confocal scanning laser ophthalmoscope. Whenever both eyes were eligible, one was randomly selected for analysis. The correlation between age and MPOD values was investigated using regression analysis.Results: Thirty subjects (30 eyes) were included (mean age 48.6 ± 16.4 [range 23–77] years). Significant differences were found between MPOD values measured at 0.5, 1, and 2 degrees from the center of the fovea (0.49 ± 0.12 density units, 0.37 ± 0.11 density units, and 0.13 ± 0.05 density units, respectively, P < 0.05). Significant correlations between age and MPOD values at 0.5 and 1 degree were found (P ≤ 0.02). Values measured at 2 degrees did not correlate significantly with age (P = 0.06).Conclusion: In healthy subjects, MPOD values were highest near the foveal center. These values appeared to increase during adulthood (peak at 45–50 years), followed by a gradual reduction after 60 years of age.Keywords: age, macular pigment optical density, dual-wavelength autofluorescence imaging, association
- Published
- 2013
31. Hemorragia subaracnóidea e síndrome de Terson: estudo prospectivo
- Author
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Arnaldo Furman Bordon, Michel Eid Farah, Eun Song Sung, and Juliana Maria Ferraz Sallum
- Subjects
Intraretinal hemorrhage ,medicine.medical_specialty ,Subarachnoid hemorrhage ,Trauma craniocerebral/complicações ,Síndrome ,Head trauma ,Aneurisma cerebral ,lcsh:Ophthalmology ,medicine ,Hemorragia vítrea ,business.industry ,Corpo vítreo ,Mortality rate ,Incidence (epidemiology) ,Hemorragia subaracnóidea ,Clinical course ,Aneurisma cerebral/complicações ,Estudos prospectivos ,General Medicine ,Subhyaloid hemorrhage ,RE1-994 ,medicine.disease ,Surgery ,Cotton wool spots ,Hemorragia subaracnóidea/etiologia ,Ophthalmology ,Corpo vítreo/patologia ,lcsh:RE1-994 ,Trauma craniocerebral ,medicine.symptom ,Hemorragia vítrea/etiologia ,business ,Hemorragia retiniana - Abstract
PURPOSE: To analyze the incidence, clinical course, ophthalmic findings, and prognosis of the patients with intracranial bleeding and Terson's syndrome. METHODS: A prospective consecutive study of patients admitted to the emergency room with the diagnosis of acute subarachnoid hemorrhage. Neurological and funduscopic examinations were performed upon admission and at days 3, 7, 30 and 60 after the diagnosis. In all cases the clinical condition was graded according to the Hunt and Hess classification. RESULTS: Seventeen patients were enrolled in this study from July to October, 2000. Terson's syndrome was diagnosed in 5 of the patients (29.4%). Fifteen cases were associated with ruptured cerebral aneurysms, and the remaining two were caused by head trauma. There was no gender preponderance (9F:8M) and the median age was 48 years (range 22-80 years). Four of the five patients (80%) with Terson's syndrome died from intracranial complications, whereas 11 patients with intracranial bleeding and no ocular involvement survived. The leading cause of mortality was rebleeding. The ophthalmoscopic findings included intraretinal bleeding (3 cases), intraretinal and with subhyaloid hemorrhage (1 case) and intraretinal hemorrhage with cotton wool spots (1 case). CONCLUSIONS: In our study, the incidence of Terson's syndrome was 29.4% and it was associated with a high mortality rate (80%).
- Published
- 2003
32. Treatment of Cystoid Macular Edema Related to Retinitis Pigmentosa With Intravitreal Triamcinolone Acetonide
- Author
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Juliana Maria Ferraz Sallum, Michel Eid Farah, and Vinicius S. Saraiva
- Subjects
medicine.medical_specialty ,Visual acuity ,Triamcinolone acetonide ,genetic structures ,business.industry ,Eye disease ,medicine.disease ,Acetonide ,eye diseases ,Surgery ,Ophthalmology ,Retinitis pigmentosa ,medicine ,Maculopathy ,sense organs ,medicine.symptom ,business ,Macular edema ,Retinopathy ,medicine.drug - Abstract
A case of cystoid macular edema related to retinitis pigmentosa treated with intravitreal injection of triamcinolone acetonide is described. A 30-year-old white man with retinitis pigmentosa and progressive visual loss presented with a best-corrected visual acuity of 20/40 in the right eye and 20/80 in the left eye. Examination revealed cystoid macular edema in both eyes. After failure of treatment with oral acetazolamide, intravitreal injection of 0.1 mL of triamcinolone acetonide 0.4% solution was performed in both eyes. In the left eye, macular edema resorbed and visual acuity improved to 20/50. However, 6 months after injection, visual acuity worsened because of recurrence of cystoid macular edema. In the right eye, cystoid macular edema also resorbed, but visual acuity was unchanged. Intravitreal triamcinolone acetonide may be useful for selected cases of cystoid macular edema related to retinitis pigmentosa. [Ophthalmic Surg Lasers Imaging 2003;34:398-400.]
- Published
- 2003
33. Retinose pigmentada unilateral secundária a trauma: relato de caso
- Author
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Thiago Iorio Tagliari, Marina Lourenço de Conti, Juliana Maria Ferraz Sallum, Marcello Novoa Colombo Barboza, Alexandre Tagliari Cestari, Fundação Lusíada Faculdade de Ciências Médicas de Santos, Universidade Federal de São Paulo (UNIFESP), and Santa Casa de São Paulo Faculdade de Ciências Médicas
- Subjects
medicine.medical_specialty ,Relatos de casos ,Case reports ,genetic structures ,business.industry ,Eye injuries ,General Medicine ,Degeneration (medical) ,Ocular trauma ,medicine.disease ,Retinal dystrophies ,eye diseases ,Traumatismos oculares ,Retinitis pigmentosa ,Ophthalmology ,lcsh:Ophthalmology ,Distrofias retinianas ,lcsh:RE1-994 ,medicine ,sense organs ,business ,Retinite pigmentosa - Abstract
A retinose pigmentada constitui um grupo de doenças causadas por alterações genéticas que levam à degeneração progressiva dos fotorreceptores, principalmente bastonetes. Em geral, tem apresentação bilateral. Este estudo é um relato de caso de uma paciente com acometimento unilateral da retina, de características semelhantes às da retinose pigmentada, com história de trauma ocular antigo. Descrevem-se sua história clínica e achados oftalmológicos. Retinitis pigmentosa is a group of diseases caused by genetic changes that lead to progressive degeneration of photoreceptors, rods mainly. In general, it has bilateral presentation. This study is a case report of a patient with unilateral involvement of the retina, similar to the characteristics of retinitis pigmentosa, and an old ocular trauma history. It describes her history and ophthalmologic findings. Fundação Lusíada Faculdade de Ciências Médicas de Santos Universidade Federal de São Paulo (UNIFESP) Santa Casa de São Paulo Faculdade de Ciências Médicas UNIFESP, EPM SciELO
- Published
- 2012
34. Hyperautofluorescent ring in autoimmune retinopathy
- Author
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Vivienne C. Greenstein, Stephen H. Tsang, Luiz H. Lima, Charles Thirkill, Jonathan P. Greenberg, Juliana Maria Ferraz Sallum, R. Theodore Smith, and Lawrence A. Yannuzzi
- Subjects
Male ,Pathology ,medicine.medical_specialty ,Retinal Artery ,Retinoschisis ,Retinal Pigment Epithelium ,Autoimmune retinopathy ,Autoantigens ,Retina ,Article ,Autoimmune Diseases ,Cone dystrophy ,Retinal Diseases ,Retinitis pigmentosa ,medicine ,Humans ,Fluorescein Angiography ,Scotoma ,Acute zonal occult outer retinopathy ,Aged ,Autoantibodies ,Aged, 80 and over ,Retinal pigment epithelium ,business.industry ,Paraneoplastic Syndromes, Ocular ,General Medicine ,Middle Aged ,medicine.disease ,eye diseases ,Ophthalmology ,medicine.anatomical_structure ,Visual Field Tests ,Female ,sense organs ,Atrophy ,Visual Fields ,business ,Tomography, Optical Coherence ,Retinopathy ,Photoreceptor Cells, Vertebrate - Abstract
Autoimmune retinopathies (AIRs), including cancer-associated retinopathy, melanoma-associated retinopathy, and nonparaneoplastic AIR, are rare and highly heterogeneous syndromes that may produce different ocular symptoms. They may be related to diverse malignancies, such as lung, prostate, breast, colon, gynecologic, and hematologic cancers, including leukemias, myelomas, and lymphomas. However, small-cell lung cancer is the systemic malignancy most often associated with cancer-associated retinopathy.1–4 Although the diagnosis of AIR is suggested by the combination of rapid and progressive deterioration in visual function, decreased electroretinography (ERG) responses out of proportion to clinical features, and the presence of circulating antiretinal autoantibodies,3 the diagnosis of AIR can be challenging. Although the antibodies against recoverin and α-enolase are the most common antibodies associated with AIR, various other causative antibodies have been described.1,3,5,6 Additionally, antiretinal antibodies have been described in other disorders, such as acute zonal occult outer retinopathy (AZOOR)7,8 and retinitis pigmentosa (RP), especially in the presence of bilateral macular edema.9,10 They are frequently observed in normal patients as well.11 Therefore, the role of antiretinal antibodies for the diagnosis of AIR remains unclear. Fundus autofluorescence (FAF), a noninvasive technique that uses a scanning laser ophthalmoscope, has been performed as an important tool in the examination of acquired and inherited retinal diseases.12–16 This procedure allows for the evaluation of lipofuscin, which is the major fluorophore derived from photoreceptor outer segments, before it accumulates in the pigment epithelial cells.17 Decreased autofluorescence (hypoautofluorescence) may indicate photoreceptor death and retinal pigment epithelial (RPE) atrophy, and increased auto-fluorescence (hyperautofluorescence) suggests compromised RPE function related to an ongoing metabolic demand, without or before photoreceptor degeneration.10,18 The abnormal parafoveal accumulation of lipofuscin represented by a hyperautofluorescent ring may be a precursor of apoptosis and has been suggested as having prognosticating value because it can constrict in patients with RP.19,20 In addition to RP, hyperautofluorescent rings have been described in other retinal degenerative diseases, such as cone dystrophy, X-linked retinoschisis, and Leber congenital amaurosis.21–23 We report hyperautofluorescent rings and corresponding spectral-domain optical coherence tomography (SD-OCT) findings in four cases of AIR.
- Published
- 2012
35. Retinitis pigmentosa in pantothenate kinase-associated neurodegeneration
- Author
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Priscilla Proveti, Orlando Graziani Povoas Barsottini, Juliana Maria Ferraz Sallum, José Luiz Pedroso, and Luiz F. Teixeira
- Subjects
Male ,Adolescent ,medicine.diagnostic_test ,business.industry ,Magnetic resonance imaging ,medicine.disease ,Magnetic Resonance Imaging ,Pantothenate kinase-associated neurodegeneration ,lcsh:RC321-571 ,Phosphotransferases (Alcohol Group Acceptor) ,nervous system ,Neurology ,Retinitis pigmentosa ,medicine ,Cancer research ,Humans ,Neurology (clinical) ,business ,lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry ,Retinitis Pigmentosa - Published
- 2014
36. Aspectos da tomografia de coerência óptica na doença de Stargardt: relato de caso
- Author
-
Enéias Bezerra Gouveia, Norma Allemann, Guilherme Matte, Adriana Berezovsky, Maira Saad de Ávila Morales, Juliana Maria Ferraz Sallum, and Universidade Federal de São Paulo (UNIFESP)
- Subjects
Retinal degeneration ,medicine.medical_specialty ,genetic structures ,Tomography, optical coherence ,Fundus (eye) ,Ophthalmology ,medicine ,Degeneração macular ,Case reports [publication type] ,Retina ,Retinal pigment epithelium ,business.industry ,Macular degeneration ,General Medicine ,medicine.disease ,eye diseases ,Stargardt disease ,Case Reports Publication Type ,Retinal pigments ,medicine.anatomical_structure ,Relatos de casos [tipo de publicação] ,Tomografia de coerência óptica ,sense organs ,Fundus oculi ,business ,Pigmentos da retina - Abstract
O termo fundus flavimaculatus (doença de Stargardt) descreve um grupo de distrofias maculares hereditárias caracterizadas por múltiplos flecks amarelados em nível do epitélio pigmentar da retina. Os autores descrevem os achados de tomografia de coerência óptica (OCT) em paciente portador de doença de Stargardt e sugerem que a OCT tem validade como exame subsidiário no estudo das características da retina de pacientes portadores da doença de Stargardt, embora estudos envolvendo maior número de pacientes sejam indicados para permitir traçar-se o perfil das alterações mais comuns nestes casos. The term fundus flavimaculatus (Stargardt disease) describes a group of inherited macular dystrophies characterized by multiple yellow to yellow-white flecks at the level of the retinal pigment epithelium. The authors describe findings in the patient with Stargardt's disease using optical coherence tomography (OCT), and suggest the examination to be valid as subsidiary method in the study of the characteristics of the retina in Stargardt's disease patients, but studies involving a series of patients should be able to show the most frequent findings in these cases. Universidade Federal de São Paulo (UNIFESP) Departamento de Oftalmologia Setor de Ultra-som Ocular UNIFESP Departamento de Oftalmologia Setor de Ultra-som Ocular UNIFESP Departamento de Oftalmologia Setor de Eletrofisiologia Ocular UNIFESP Departamento de Oftalmologia Setor de Retina UNIFESP, Depto. de Oftalmologia Setor de Ultra-som Ocular UNIFESP, Depto. de Oftalmologia Setor de Ultra-som Ocular UNIFESP, Depto. de Oftalmologia Setor de Eletrofisiologia Ocular UNIFESP, Depto. de Oftalmologia Setor de Retina SciELO
- Published
- 2006
37. TGFBI gene mutations in Brazilian patients with corneal dystrophy
- Author
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Miguel N. Burnier, Juliana Maria Ferraz Sallum, Rubens Belfort, H. P. Solari, M P Ventura, and Ana Beatriz Alvarez Perez
- Subjects
Proband ,medicine.medical_specialty ,Pathology ,Eye disease ,DNA Mutational Analysis ,Molecular Sequence Data ,Corneal dystrophy ,Polymerase Chain Reaction ,law.invention ,Exon ,law ,Transforming Growth Factor beta ,Ophthalmology ,medicine ,Humans ,Gene ,Polymerase chain reaction ,Corneal Dystrophies, Hereditary ,Extracellular Matrix Proteins ,Base Sequence ,business.industry ,medicine.disease ,eye diseases ,genomic DNA ,Mutation ,sense organs ,business ,TGFBI - Abstract
To investigate the transforming growth factor beta-induced gene (TGFBI) mutations in Brazilian patients with corneal dystrophy and to evaluate the phenotype-genotype correlation in these patients.A total of 11 unrelated families were studied. The diagnosis of corneal dystrophy was based on clinical and histopathological findings. Genomic DNA was extracted from peripheral blood leucocytes, and exons 4 and 12 of the TGFBIgene were amplified by polymerase chain reaction followed by direct sequencing on both strands.Five different mutations in the TGFBIgene were found in the probands. We identified the following mutations: lattice corneal dystrophy--R124C and A546T; Reis-Bücklers corneal dystrophy--R555Q and R124L; granular corneal dystrophy--R555W and Avellino dystrophy--R555W. In three of the 11 studied families there was no mutation in exons 4 and 12.This is the first report of mutations in the TGFBIgene in a series of Brazilian patients with corneal dystrophy. The findings indicate that TGFBIgene screening should be considered in the diagnosis of corneal dystrophy.
- Published
- 2006
38. Giant annular posttraumatic choroidal rupture
- Author
-
Nichard Unonius, Juliana Maria Ferraz Sallum, Michel Eid Farah, Jodeilson Araújo, and Daniela Calucci
- Subjects
Adult ,Male ,Rupture ,medicine.medical_specialty ,business.industry ,Choroid ,General Medicine ,Anatomy ,medicine.disease ,Wounds, Nonpenetrating ,Eye injuries ,Wounds nonpenetrating ,Ophthalmology ,medicine.anatomical_structure ,Eye Injuries ,Tennis ,Choroidal rupture ,medicine ,Humans ,Fluorescein Angiography ,business ,Tomography, Optical Coherence - Published
- 2004
39. Cystoid macular edema in gyrate atrophy of the choroid and retina: a fluorescein angiography and optical coherence tomography evaluation
- Author
-
Rubens Belfort, Cristina Muccioli, Juliana Maria Ferraz Sallum, Rafael E. Andrade, and Tâmara L. Oliveira
- Subjects
Male ,Ornithine ,medicine.medical_specialty ,Visual acuity ,genetic structures ,Macular Edema ,Retina ,Optical coherence tomography ,Ophthalmology ,medicine ,Gyrate Atrophy ,Humans ,Fluorescein Angiography ,Child ,Macular edema ,medicine.diagnostic_test ,business.industry ,Choroid ,medicine.disease ,Fluorescein angiography ,eye diseases ,Surgery ,medicine.anatomical_structure ,Angiography ,Maculopathy ,sense organs ,medicine.symptom ,business ,Tomography, Optical Coherence ,Retinopathy - Abstract
Purpose To analyze the importance f optical coherence tomography (OCT) to diagnose the cystoid macular edema in a case of gyrate atrophy. Design Observational case report. Methods A 12-year-old boy presenting with gyrate atrophy of the choroid and retina underwent ophthalmologic, clinical, and laboratory tests. Results Plasma ornithine level was 735 μmol/l. Fluorescein angiography showed bilateral hyperfluorescence involving the central region of the macula. Optical coherence tomography (OCT) disclosed bilateral intraretinal cysts areas of low reflectivity with occasional high-signal elements bridging the retinal layers and intraretinal thickening. Conclusions Both fluorescein angiography and OCT were helpful to confirm the diagnosis of macular involvement as a complication of gyrate atrophy of the choroid and retina in a patient who presented without any clinical evidence of cystoid macular edema, except a decrease in visual acuity.
- Published
- 2004
40. Macular Pigment Optical Density Measured by Dual-Wavelength Autofluorescence Imaging in Diabetic and Nondiabetic Patients: A Comparative Study
- Author
-
Richard B Rosen, Mauricio Maia, Juliana Maria Ferraz Sallum, Verônica Castro Lima, Michel Eid Farah, Tiago S. Prata, and Syril Dorairaj
- Subjects
Male ,medicine.medical_specialty ,Xanthophylls ,Retina ,Ophthalmoscopy ,Zeaxanthins ,Ophthalmology ,Diabetes mellitus ,medicine ,Humans ,Prospective Studies ,Fluorescein Angiography ,Prospective cohort study ,Glycated Hemoglobin ,Diabetic Retinopathy ,medicine.diagnostic_test ,business.industry ,Lutein ,Middle Aged ,Image Enhancement ,medicine.disease ,Fluorescein angiography ,Lipids ,Diabetes Mellitus, Type 2 ,Optometry ,Female ,Analysis of variance ,Hemoglobin ,Densitometry ,business ,Retinal Pigments ,Retinopathy - Abstract
To compare macular pigment optical density (MPOD) in type 2 diabetic and nondiabetic patients by using dual-wavelength autofluorescence imaging and to investigate the correlation of MPOD with glycosylated hemoglobin (HbA1C) and serum lipid levels.Forty-three patients were divided into groups 1 (controls, n = 14), 2 (diabetic without retinopathy, n = 17), and 3 (diabetic with mild nonproliferative retinopathy, n = 12). MPOD was measured with a modified confocal scanning laser ophthalmoscope and compared among groups (analysis of variance). The correlation of HbA1C and serum lipid (HDL, LDL, total cholesterol, and triglycerides) levels with MPOD was determined for each group (linear regression analysis).Mean ± SD ages in groups 1 (56.2 ± 11.7 years), 2 (58.6 ± 11.5 years), and 3 (62.8 ± 9.8 years) were similar (P = 0.324). Mean MPOD averaged in a 2°-diameter circle around the fovea was significantly different between the three groups: 1, (0.29 ± 0.07 density units [DU]), 2 (0.22 ± 0.09 DU), and 3 (0.14 ± 0.05 DU) (P0.001). There was a significant difference in mean MPOD levels at 0.5° between groups 1 (0.51 ± 0.12 DU) and 2 (0.24 ± 0.11 DU; P0.001), but not between groups 2 and 3 (0.33 ± 0.15 DU; P0.05). A significant inverse correlation was observed between HbA1C levels and mean MPOD, averaged at 2° around the fovea in all patients (r = -0.63, P0.001). No significant correlations were found between MPOD and serum lipid levels or age.Type 2 diabetic patients, with or without retinopathy, had reduced MPOD when compared with that in nondiabetic patients. In addition, a significant inverse correlation between MPOD and HbA1C levels was observed.
- Published
- 2010
41. Retinal dystrophies and variants in PRPH2
- Author
-
Suel Abujamra, Daniel Martin, Mariana Matioli da Palma, Juliana Maria Ferraz Sallum, Mariana Vallim Salles, and Fabiana Louise Motta
- Subjects
Retinal degeneration ,Pathology ,medicine.medical_specialty ,genetic structures ,Vitelliform macular dystrophy ,Fundus (eye) ,03 medical and health sciences ,0302 clinical medicine ,lcsh:Ophthalmology ,Retinitis pigmentosa ,medicine ,Retinite pigmentosa ,business.industry ,General Medicine ,medicine.disease ,Leber congenital amaurosis ,Photoreceptor outer segment ,Genética ,eye diseases ,Técnicas de genotipagem ,Stargardt disease ,Ophthalmology ,lcsh:RE1-994 ,030221 ophthalmology & optometry ,Distrofia macular viteliforme ,sense organs ,Degeneração retiniana ,business ,Retinal Dystrophies - Abstract
This report presents three patients diagnosed with macular dystrophies with variants in PRPH2. Peripherin-2, the protein of this gene, is important in the morphogenesis and stabilization of the photoreceptor outer segment. Peripherin-2 deficiencies cause cellular apoptosis. Moreover, pathogenic variants in PRPH2 are associated with various diseases, such as pattern, butterfly-shaped pattern, central areolar, adult-onset vitelliform macular, and cone-rod dystrophies as well as retinitis pigmentosa, retinitis punctata albescens, Leber congenital amaurosis, fundus flavimaculatus, and Stargardt disease.
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