286 results on '"Cone-Rod Dystrophies"'
Search Results
2. Virtual Reality Mobility Assessment of Functional Vision in Retinal Disease
- Published
- 2024
3. Study to Evaluate ACDN-01 in ABCA4-related Retinopathy (STELLAR)
- Published
- 2024
4. Prescreening Study to Identify Potential Participants for ACDN-01 Clinical Trials
- Published
- 2024
5. Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
- Published
- 2024
6. Adaptive Optics Imaging of Outer Retinal Diseases
- Author
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National Eye Institute (NEI) and Daniel Hammer, Deputy Director, Division of Biomedical Physics
- Published
- 2023
7. The effect of SARS-CoV-2 variant on respiratory features and mortality
- Author
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Hughes, Thomas D, Subramanian, Ajan, Chakraborty, Rana, Cotton, Shannon A, Herrera, Maria Del Pilar Giraldo, Huang, Yong, Lambert, Natalie, Pinto, Melissa D, Rahmani, Amir M, Sierra, Carmen Josefa, and Downs, Charles A
- Subjects
Biomedical and Clinical Sciences ,Public Health ,Health Sciences ,Lung ,Immunization ,Infectious Diseases ,Prevention ,Vaccine Related ,Clinical Research ,Pneumonia & Influenza ,Infection ,Good Health and Well Being ,Humans ,SARS-CoV-2 ,COVID-19 ,Cone-Rod Dystrophies ,Larynx ,Vaccination - Abstract
SARS-CoV-2 (COVID-19) has caused over 80 million infections 973,000 deaths in the United States, and mutations are linked to increased transmissibility. This study aimed to determine the effect of SARS-CoV-2 variants on respiratory features, mortality, and to determine the effect of vaccination status. A retrospective review of medical records (n = 55,406 unique patients) using the University of California Health COvid Research Data Set (UC CORDS) was performed to identify respiratory features, vaccination status, and mortality from 01/01/2020 to 04/26/2022. Variants were identified using the CDC data tracker. Increased odds of death were observed amongst unvaccinated individuals and fully vaccinated, partially vaccinated, or individuals who received any vaccination during multiple waves of the pandemic. Vaccination status was associated with survival and a decreased frequency of many respiratory features. More recent SARS-CoV-2 variants show a reduction in lower respiratory tract features with an increase in upper respiratory tract features. Being fully vaccinated results in fewer respiratory features and higher odds of survival, supporting vaccination in preventing morbidity and mortality from COVID-19.
- Published
- 2023
8. Inherited Retinal Degenerative Disease Registry (MRTR)
- Published
- 2023
9. Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1
- Author
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Martin-Gutierrez, Maria Pilar, Schiff, Elena R, Wright, Genevieve, Waseem, Naushin, Mahroo, Omar A, Michaelides, Michel, Moore, Anthony T, Webster, Andrew R, and Arno, Gavin
- Subjects
Biomedical and Clinical Sciences ,Ophthalmology and Optometry ,Neurosciences ,Eye Disease and Disorders of Vision ,Genetics ,Biotechnology ,Rare Diseases ,Aetiology ,2.1 Biological and endogenous factors ,Eye ,AC133 Antigen ,Alleles ,Cone-Rod Dystrophies ,Humans ,Mutation ,Mutation ,Missense ,Pedigree ,Phenotype ,Retinal Dystrophies ,Retinitis Pigmentosa ,RIMS1 ,PROM1 ,CORD7 ,autosomal dominant cone rod dystrophy ,Genomics England Research Consortium ,Biological Sciences ,Medical and Health Sciences ,Ophthalmology & Optometry ,Ophthalmology and optometry - Abstract
PurposeAutosomal dominant cone rod dystrophy 7 (CORD7) was initially linked to the gene RIMS1 and reported in a 4-generation British family in 1998. The purpose of this study was to investigate the legitimacy of this association, and to correctly characterize the genetic cause of this condition.MethodsThe allele frequency of RIMS1 c.2459G>A, p.Arg820His, was investigated in the Genomes Aggregation Dataset (gnomAD) datasets and whole genome sequencing (WGS) was performed for 4 members of the CORD7 family with filtering of rare pathogenic variants in a virtual gene panel comprising all genes known to be associated with inherited retinal dystrophy (IRD). Cytogenetic analysis was performed to rule out interchromosomal translocation.ResultsRIMS1 p.Arg820His has a maximal carrier frequency of >1:5000 in Europeans. A previously well-characterized PROM1 variant: c.1118C>T, p.Arg373Cys, was detected in 9 affected members of the CORD7 family who underwent WGS or direct sequencing. One affected family member is now known to have macular dystrophy in the absence of RIMS1 p.Arg820His. Clinical analysis of affected family members and 27 individuals with retinopathy associated with the same - PROM1 - variant showed consistent phenotypes.ConclusionsThe case for pathogenicity of RIMS1 p.Arg820His is not strong based on its presence on 10 alleles in the gnomAD dataset and absence from additional CORD affected individuals. The finding of a known pathogenic variant in PROM1 correlates well with the phenotypic characteristics of the affected individuals, and is likely to account for the condition. Clear evidence of association between RIMS1 and a retinal dystrophy is yet to be described.
- Published
- 2022
10. Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome
- Author
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Igelman, Austin D, Ku, Cristy, da Palma, Mariana Matioli, Georgiou, Michalis, Schiff, Elena R, Lam, Byron L, Sankila, Eeva-Marja, Ahn, Jeeyun, Pyers, Lindsey, Vincent, Ajoy, Sallum, Juliana Maria Ferraz, Zein, Wadih M, Oh, Jin Kyun, Maldonado, Ramiro S, Ryu, Joseph, Tsang, Stephen H, Gorin, Michael B, Webster, Andrew R, Michaelides, Michel, Yang, Paul, and Pennesi, Mark E
- Subjects
Clinical Research ,Genetics ,Eye Disease and Disorders of Vision ,Neurosciences ,Neurodegenerative ,Pediatric ,Orphan Drug ,Rare Diseases ,2.1 Biological and endogenous factors ,Aetiology ,Eye ,Adolescent ,Adult ,Aged ,Arylsulfatases ,Autoantigens ,Cell Cycle Proteins ,Codon ,Nonsense ,Cone-Rod Dystrophies ,Female ,Frameshift Mutation ,Genetic Testing ,Hearing Loss ,Sensorineural ,Humans ,Male ,Middle Aged ,Monoacylglycerol Lipases ,Multimodal Imaging ,Phenotype ,Retinal Pigment Epithelium ,Retrospective Studies ,Tomography ,Optical Coherence ,Usher Syndromes ,Visual Acuity ,Young Adult ,Atypical usher syndrome ,CEP78 ,cep250 ,ARSG ,ABHD12 ,Opthalmology and Optometry ,Ophthalmology & Optometry - Abstract
Atypical Usher syndrome (USH) is poorly defined with a broad clinical spectrum. Here, we characterize the clinical phenotype of disease caused by variants in CEP78, CEP250, ARSG, and ABHD12.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.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.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 who have clinical symptoms and retinal findings even in the absence of known SNHL given the variability of atypical USH.
- Published
- 2021
11. Study of New Mutations in Cone Disorders (INTROCONE)
- Published
- 2022
12. The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide.
- Author
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Yang, Tsai-Hsuan, Kang, Eugene Yu-Chuan, Lin, Pei-Hsuan, Wu, Pei-Liang, Sachs, Jacob Aaron, and Wang, Nan-Kai
- Subjects
- *
RETINAL degeneration , *ELECTRORETINOGRAPHY , *GENETIC testing , *BIPOLAR cells , *CORNEAL dystrophies , *SYMPTOMS - Abstract
Inherited retinal dystrophies (IRDs) are a group of heterogeneous diseases caused by genetic mutations that specifically affect the function of the rod, cone, or bipolar cells in the retina. Electroretinography (ERG) is a diagnostic tool that measures the electrical activity of the retina in response to light stimuli, and it can help to determine the function of these cells. A normal ERG response consists of two waves, the a-wave and the b-wave, which reflect the activity of the photoreceptor cells and the bipolar and Muller cells, respectively. Despite the growing availability of next-generation sequencing (NGS) technology, identifying the precise genetic mutation causing an IRD can be challenging and costly. However, certain types of IRDs present with unique ERG features that can help guide genetic testing. By combining these ERG findings with other clinical information, such as on family history and retinal imaging, physicians can effectively narrow down the list of candidate genes to be sequenced, thereby reducing the cost of genetic testing. This review article focuses on certain types of IRDs with unique ERG features. We will discuss the pathophysiology and clinical presentation of, and ERG findings on, these disorders, emphasizing the unique role ERG plays in their diagnosis and genetic testing. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
13. Enfermedades crónicas no transmisibles en pacientes y familias con retinosis pigmentaria.
- Author
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Hernández Baguer, Raisa, Beltràn Saìnz, Raisa Ivis, Rodrìguez Morris, Asunciòn Fortunata, MagdalenaCordero Ruiz, Dagmara, Savòn George, Loida Mevis, and Cid Vàzquez, Bàrbara
- Abstract
Background: retinitis pigmentosa, an ocular disease of genetic origin and low prevalence, slowly progresses over years towards severe visual impairment and affects social performance. In the Ophthalmology Service of the Dr. Salvador Allende Clinical Surgical Teaching Hospital, there is an institutional care protocol that includes systematic and comprehensive care for those affected. Objective: to identify chronic non-communicable diseases in patients with retinitis pigmentosa and their relatives. Methods: descriptive, prospective study carried out between March 2016-March 2022, with non-probabilistic and intentional sampling. Patients and families registered in the service's database, residing in the Cerro and Plaza municipalities, in Havana, were selected. Results: of 145 people studied (74 patients with retinitis pigmentosa and 71 relatives), 138 (95.1%) had non-communicable chronic diseases, among which arterial hypertension (29.7%), diabetes mellitus (21 0.0%) and the association of both (13.0%). In community dispensing, people with visual impairment are included in Group 4 and also in other dispensing groups to better attend to the risk factors and chronic non-communicable diseases found in them. Conclusions: the identification of chronic non-communicable diseases was useful to deploy holistic and interdisciplinary medical care that facilitates the prevention of diseases and complications, preserves vision, optimizes visual rehabilitation and quality of life. It is recommended to apply attentive care and improve health education in patients with retinitis pigmentosa. [ABSTRACT FROM AUTHOR]
- Published
- 2023
14. PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation.
- Author
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Corral-Serrano, Julio, Lamers, Ideke, van Reeuwijk, Jeroen, Duijkers, Lonneke, Hoogendoorn, Anita, Yildirim, Adem, Argyrou, Nikoleta, Ruigrok, Renate, Letteboer, Stef, Butcher, Rossano, van Essen, Max, Sakami, Sanae, van Beersum, Sylvia, Palczewski, Krzysztof, Cheetham, Michael, Liu, Qin, Boldt, Karsten, Wolfrum, Uwe, Ueffing, Marius, Garanto, Alejandro, Roepman, Ronald, and Collin, Rob
- Subjects
actin ,cilium ,outer segments ,photoreceptor ,retinitis pigmentosa ,Actin-Related Protein 2-3 Complex ,Actins ,Animals ,Cilia ,Cone-Rod Dystrophies ,Disease Models ,Animal ,Eye Proteins ,Gene Expression Regulation ,Humans ,Mice ,Mice ,Knockout ,RNA ,Small Interfering ,Retinal Cone Photoreceptor Cells ,Rod Cell Outer Segment ,Wiskott-Aldrich Syndrome Protein Family - Abstract
The outer segments (OS) of rod and cone photoreceptor cells are specialized sensory cilia that contain hundreds of opsin-loaded stacked membrane disks that enable phototransduction. The biogenesis of these disks is initiated at the OS base, but the driving force has been debated. Here, we studied the function of the protein encoded by the photoreceptor-specific gene C2orf71, which is mutated in inherited retinal dystrophy (RP54). We demonstrate that C2orf71/PCARE (photoreceptor cilium actin regulator) can interact with the Arp2/3 complex activator WASF3, and efficiently recruits it to the primary cilium. Ectopic coexpression of PCARE and WASF3 in ciliated cells results in the remarkable expansion of the ciliary tip. This process was disrupted by small interfering RNA (siRNA)-based down-regulation of an actin regulator, by pharmacological inhibition of actin polymerization, and by the expression of PCARE harboring a retinal dystrophy-associated missense mutation. Using human retinal organoids and mouse retina, we observed that a similar actin dynamics-driven process is operational at the base of the photoreceptor OS where the PCARE module and actin colocalize, but which is abrogated in Pcare-/- mice. The observation that several proteins involved in retinal ciliopathies are translocated to these expansions renders it a potential common denominator in the pathomechanisms of these hereditary disorders. Together, our work suggests that PCARE is an actin-associated protein that interacts with WASF3 to regulate the actin-driven expansion of the ciliary membrane at the initiation of new outer segment disk formation.
- Published
- 2020
15. Retinitis Pigmentosa and Allied Diseases
- Author
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Aleman, Tomas S., Huckfeldt, Rachel, Section editor, Albert, Daniel M., editor, Miller, Joan W., editor, Azar, Dimitri T., editor, and Young, Lucy H., editor
- Published
- 2022
- Full Text
- View/download PDF
16. Loss of Foveal Cone Structure Precedes Loss of Visual Acuity in Patients With Rod-Cone Degeneration
- Author
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Bensinger, Ethan, Rinella, Nicholas, Saud, Asma, Loumou, Panagiota, Ratnam, Kavitha, Griffin, Shane, Qin, Jia, Porco, Travis C, Roorda, Austin, and Duncan, Jacque L
- Subjects
Biomedical and Clinical Sciences ,Ophthalmology and Optometry ,Eye Disease and Disorders of Vision ,Neurosciences ,Clinical Research ,Neurodegenerative ,Eye ,Adult ,Cone-Rod Dystrophies ,Disease Progression ,Female ,Follow-Up Studies ,Fovea Centralis ,Humans ,Male ,Middle Aged ,Ophthalmoscopy ,Retinal Cone Photoreceptor Cells ,Retrospective Studies ,Time Factors ,Tomography ,Optical Coherence ,Visual Acuity ,Young Adult ,adaptive optics scanning laser ophthalmoscopy ,retinal degeneration ,cones ,Biological Sciences ,Medical and Health Sciences ,Ophthalmology & Optometry ,Ophthalmology and optometry - Abstract
PurposeTo assess the relationship between cone spacing and visual acuity in eyes with rod-cone degeneration (RCD) followed longitudinally.MethodsHigh-resolution images of the retina were obtained using adaptive optics scanning laser ophthalmoscopy from 13 eyes of nine RCD patients and 13 eyes of eight healthy subjects at two sessions separated by 10 or more months (mean 765 days, range 311-1935 days). Cone spacing Z-score measured as close as possible (average
- Published
- 2019
17. PRCD is essential for high-fidelity photoreceptor disc formation
- Author
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Spencer, William J, Ding, Jin-Dong, Lewis, Tylor R, Yu, Chen, Phan, Sebastien, Pearring, Jillian N, Kim, Keun-Young, Thor, Andrea, Mathew, Rose, Kalnitsky, Joan, Hao, Ying, Travis, Amanda M, Biswas, Sondip K, Lo, Woo-Kuen, Besharse, Joseph C, Ellisman, Mark H, Saban, Daniel R, Burns, Marie E, and Arshavsky, Vadim Y
- Subjects
Biochemistry and Cell Biology ,Biological Sciences ,Biotechnology ,Eye Disease and Disorders of Vision ,Neurosciences ,Eye ,Animals ,Cell Membrane ,Cell-Derived Microparticles ,Cone-Rod Dystrophies ,Disease Models ,Animal ,Dogs ,Extracellular Space ,Eye Proteins ,Humans ,Membrane Proteins ,Mice ,Mice ,Knockout ,Microscopy ,Electron ,Transmission ,Morphogenesis ,Retinal Photoreceptor Cell Outer Segment ,Retinitis Pigmentosa ,photoreceptor ,PRCD ,retinal degeneration ,microglia - Abstract
Progressive rod-cone degeneration (PRCD) is a small protein residing in the light-sensitive disc membranes of the photoreceptor outer segment. Until now, the function of PRCD has remained enigmatic despite multiple demonstrations that its mutations cause blindness in humans and dogs. Here, we generated a PRCD knockout mouse and observed a striking defect in disc morphogenesis, whereby newly forming discs do not properly flatten. This leads to the budding of disc-derived vesicles, specifically at the site of disc morphogenesis, which accumulate in the interphotoreceptor matrix. The defect in nascent disc flattening only minimally alters the photoreceptor outer segment architecture beyond the site of new disc formation and does not affect the abundance of outer segment proteins and the photoreceptor's ability to generate responses to light. Interestingly, the retinal pigment epithelium, responsible for normal phagocytosis of shed outer segment material, lacks the capacity to clear the disc-derived vesicles. This deficiency is partially compensated by a unique pattern of microglial migration to the site of disc formation where they actively phagocytize vesicles. However, the microglial response is insufficient to prevent vesicular accumulation and photoreceptors of PRCD knockout mice undergo slow, progressive degeneration. Taken together, these data show that the function of PRCD is to keep evaginating membranes of new discs tightly apposed to each other, which is essential for the high fidelity of photoreceptor disc morphogenesis and photoreceptor survival.
- Published
- 2019
18. The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide
- Author
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Tsai-Hsuan Yang, Eugene Yu-Chuan Kang, Pei-Hsuan Lin, Pei-Liang Wu, Jacob Aaron Sachs, and Nan-Kai Wang
- Subjects
electroretinography ,inherited retinal dystrophies ,electronegative ERG ,congenital stationary night blindness ,X-linked retinoschisis ,cone–rod dystrophies ,Medicine (General) ,R5-920 - Abstract
Inherited retinal dystrophies (IRDs) are a group of heterogeneous diseases caused by genetic mutations that specifically affect the function of the rod, cone, or bipolar cells in the retina. Electroretinography (ERG) is a diagnostic tool that measures the electrical activity of the retina in response to light stimuli, and it can help to determine the function of these cells. A normal ERG response consists of two waves, the a-wave and the b-wave, which reflect the activity of the photoreceptor cells and the bipolar and Muller cells, respectively. Despite the growing availability of next-generation sequencing (NGS) technology, identifying the precise genetic mutation causing an IRD can be challenging and costly. However, certain types of IRDs present with unique ERG features that can help guide genetic testing. By combining these ERG findings with other clinical information, such as on family history and retinal imaging, physicians can effectively narrow down the list of candidate genes to be sequenced, thereby reducing the cost of genetic testing. This review article focuses on certain types of IRDs with unique ERG features. We will discuss the pathophysiology and clinical presentation of, and ERG findings on, these disorders, emphasizing the unique role ERG plays in their diagnosis and genetic testing.
- Published
- 2023
- Full Text
- View/download PDF
19. Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta
- Author
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Hirji, Nashila, Bradley, Patrick D, Li, Shuning, Vincent, Ajoy, Pennesi, Mark E, Thomas, Akshay S, Heon, Elise, Bhan, Aparna, Mahroo, Omar A, Robson, Anthony, Inglehearn, Chris F, Moore, Anthony T, and Michaelides, Michel
- Subjects
Biomedical and Clinical Sciences ,Ophthalmology and Optometry ,Rare Diseases ,Biomedical Imaging ,Neurosciences ,Eye Disease and Disorders of Vision ,Neurodegenerative ,Brain Disorders ,Clinical Research ,2.1 Biological and endogenous factors ,Aetiology ,Eye ,Adolescent ,Amelogenesis Imperfecta ,Cation Transport Proteins ,Child ,Child ,Preschool ,Cone-Rod Dystrophies ,Cross-Sectional Studies ,Electroretinography ,Female ,Fluorescein Angiography ,Humans ,Longitudinal Studies ,Male ,Multimodal Imaging ,Mutation ,Retrospective Studies ,Tomography ,Optical Coherence ,Visual Acuity ,Clinical Sciences ,Opthalmology and Optometry ,Public Health and Health Services ,Ophthalmology & Optometry ,Ophthalmology and optometry - Abstract
PURPOSE:To characterize a series of 7 patients with cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI) owing to confirmed mutations in CNNM4, first described as "Jalili Syndrome." DESIGN:Retrospective observational case series. METHODS:Seven patients from 6 families with Jalili Syndrome were identified at 3 tertiary referral centers. We systematically reviewed their available medical records, spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence imaging (FAF), color fundus photography, and electrophysiological assessments. RESULTS:The mean age at presentation was 6.7 years (range 3-16 years), with 6 male and 1 female patient. CNNM4 mutations were identified in all patients. The mean Snellen best-corrected visual acuity (BCVA) at presentation was 20/246 (range 20/98 to 20/399) in the right eye and 20/252 (range 20/98 to 20/480) in the left. Nystagmus was observed in all 7 patients, and photophobia was present in 6. Funduscopic findings at presentation were variable, ranging from only mild disc pallor to retinal vascular attenuation and macular atrophy. Multimodal imaging demonstrated disease progression in all 7 patients over time. Electroretinography uniformly revealed progressive cone-rod dysfunction. CONCLUSIONS:Jalili Syndrome is a rare CORD associated with AI. We have further characterized its ocular phenotype, including describing SD-OCT, FAF, and electrophysiological features; and report several novel disease-causing sequence variants. Moreover, this study presents novel longitudinal data demonstrating structural and functional progression over time, allowing better informed advice on prognosis.
- Published
- 2018
20. Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS)
- Published
- 2019
21. Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy (IRIS 2)
- Published
- 2019
22. The Collection and Storage of Umbilical Cord Blood for Transplantation
- Author
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National Cancer Institute (NCI)
- Published
- 2019
23. Artificial vision: the effectiveness of the OrCam in patients with advanced inherited retinal dystrophies.
- Author
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Nguyen, Xuan‐Thanh‐An, Koopman, Jan, van Genderen, Maria M., Stam, Henk L.M., and Boon, Camiel J.F.
- Subjects
- *
LOW vision , *ARTIFICIAL vision , *RETINAL degeneration , *RETINITIS pigmentosa , *VISUAL acuity , *STANDARD deviations - Abstract
Purpose: To investigate the impact of the OrCam MyEye 2.0 (OrCam) on the quality of life and rehabilitation needs in patients with advanced retinitis pigmentosa (RP) or cone‐rod dystrophies (CRD). The OrCam is a wearable low‐vision aid that converts visual information to auditive feedback (e.g. text‐to‐speech, barcode and facial recognition). Methods: Patients with a clinical diagnosis of RP (n = 9, 45%) or CRD (n = 11; 55%), and a best‐corrected visual acuity of ≤20/400 Snellen were invited to participate in this study. Questionnaires were administered at baseline and after 5.2 (standard deviation ± 1.5) weeks, which included the Dutch version of the National Eye Institute Visual Functioning Questionnaire (NEI‐VFQ), the Participation and Activity Inventory (PAI) and the OrCam Function Questionnaire (OFQ). Results: Following OrCam testing, significant improvements were observed in the 'near activities' subscale of the NEI‐VFQ (p < 0.001); the 'visual functioning' subscale of the re‐engineered NEI‐VFQ (p = 0.001); the 'reading' rehabilitation goal of the PAI (p = 0.005) and the overall score of the OFQ (p < 0.001). The observed changes in questionnaire scores did not differ between phenotypes. Advantages and limitations of the OrCam were reported by patients. Three patients (15%) continued rehabilitation with the OrCam after completion of this study. Conclusions: The OrCam mainly improves reading domains in patients with advanced stages of RP or CRD. Further improvements in the OrCam are needed to address current limitations, which may enhance its utility for patients with RP or CRD. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
24. Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes
- Author
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Georgiou, Michalis, Robson, Anthony G., Fujinami, Kaoru, de Guimarães, Thales A.C., Fujinami-Yokokawa, Yu, Daich Varela, Malena, Pontikos, Nikolas, Kalitzeos, Angelos, Mahroo, Omar A., Webster, Andrew R., and Michaelides, Michel
- Subjects
- *
RETINAL degeneration , *RETINAL diseases , *GENETIC disorders , *MACULAR degeneration , *MOLECULAR genetics , *DIABETIC retinopathy , *EYE diseases - Abstract
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age population and in children. The scope of this review is to familiarise clinicians and scientists with the current landscape of molecular genetics, clinical phenotype, retinal imaging and therapeutic prospects/completed trials in IRD. Herein we present in a comprehensive and concise manner: (i) macular dystrophies (Stargardt disease (ABCA4), X-linked retinoschisis (RS1), Best disease (BEST1), PRPH2- associated pattern dystrophy, Sorsby fundus dystrophy (TIMP3), and autosomal dominant drusen (EFEMP1)), (ii) cone and cone-rod dystrophies (GUCA1A , PRPH2 , ABCA4, KCNV2 and RPGR) , (iii) predominant rod or rod-cone dystrophies (retinitis pigmentosa, enhanced S-Cone syndrome (NR2E3), Bietti crystalline corneoretinal dystrophy (CYP4V2)), (iv) Leber congenital amaurosis/early-onset severe retinal dystrophy (GUCY2D , CEP290 , CRB1 , RDH12 , RPE65, TULP1 , AIPL1 and NMNAT1) , (v) cone dysfunction syndromes (achromatopsia (CNGA3, CNGB3, PDE6C, PDE6H, GNAT2, ATF6), X-linked cone dysfunction with myopia and dichromacy (Bornholm Eye disease; OPN1LW/OPN1MW array), oligocone trichromacy, and blue-cone monochromatism (OPN1LW/OPN1MW array)). Whilst we use the aforementioned classical phenotypic groupings, a key feature of IRD is that it is characterised by tremendous heterogeneity and variable expressivity, with several of the above genes associated with a range of phenotypes. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
25. Degenerative Night-Blinding Disorders and Cone and Cone–Rod Dystrophies
- Author
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Kheir, Wajiha Jurdi, Yu, Minzhong, Senatore, Alfonso, Racioppi, Alessandro, Gattegna, Roberto, Creel, Donnell, Iannaccone, Alessandro, Yu, Minzhong, editor, Creel, Donnell, editor, and Iannaccone, Alessandro, editor
- Published
- 2019
- Full Text
- View/download PDF
26. Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy (IRIS-1)
- Published
- 2017
27. ATXN7-Related Cone-Rod Dystrophy: The Integrated Functional Evaluation of the Cerebellum (CERMOI) Study.
- Author
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Nassisi M, Coarelli G, Blanchard B, Dubec-Fleury C, Drine K, Kitic N, Sancho S, Hilab R, Tezenas du Montcel S, Junge C, Lane R, Arnold HM, Durr A, and Audo I
- Subjects
- Adult, Male, Humans, Female, Cross-Sectional Studies, Cerebellum, Biomarkers, Cone-Rod Dystrophies, Cone Dystrophy, Spinocerebellar Ataxias diagnosis
- Abstract
Importance: Reliable biomarkers with diagnostic and prognostic values are needed for upcoming gene therapy trials for spinocerebellar ataxias., Objective: To identify ophthalmological biomarkers in a sample of spinocerebellar ataxia type 7 (SCA7) carriers., Design, Setting, and Participants: This article presents baseline data from a cross-sectional natural history study conducted in Paris, France, reference centers for rare diseases from May 2020 to April 2021. Data were analyzed from September to December 2022. Fifteen adult ATXN7 pathogenic expansion carriers (9 with preataxia and 6 with ataxia) were included, all with a Scale for the Assessment and Rating of Ataxia (SARA) score of 15 of 40 or lower. Patients were recruited at the Paris Brain Institute, and all contacted patients accepted to participate in the study., Main Outcomes and Measures: Three visits (baseline, 6 months, and 12 months) were planned, including neurological examination (SARA and Composite Cerebellar Functional Severity Score), ophthalmological examination (best-corrected visual acuity, microperimetry, full-field electroretinogram, optical coherence tomography, and fundus autofluorescence imaging), and neurofilament light chain (NfL) measurements. Here we report the baseline ophthalmic data from the cohort and determine whether there is a correlation between disease scores and ophthalmic results., Results: Among the 15 included SCA7 carriers (median [range] age, 38 [18-60] years; 8 women and 7 men), 12 displayed cone or cone-rod dystrophy, with the number of CAG repeats correlating with disease severity (ρ, 0.73, 95% CI, 0.34 to 0.90; P < .001). Two patients with cone-rod dystrophy exhibited higher repeat numbers and greater ataxia scores (median [range] SARA score, 9 [7-15]) compared to those with only cone dystrophy (median [range] SARA score, 2 [0-5]). A correlation emerged for outer nuclear layer thickness with SARA score (ρ, -0.88; 95% CI, -0.96 to -0.59; P < .001) and NfL levels (ρ, -0.87; 95% CI, -0.86 to 0.96; P < .001). Moreover, ataxia severity was correlated with visual acuity (ρ: 0.89; 95% CI, 0.68 to 0.96; P < .001) and retinal sensitivity (ρ, -0.88; 95% CI, -0.96 to 0.59; P < .001)., Conclusions and Relevance: In this cross-sectional study, retinal abnormalities were found at preataxic stages of the disease. Most of the carriers presented with cone dystrophy and preserved rod function. The outer nuclear layer thickness correlated with SARA score and plasma NfL levels suggesting nuclear layer thickness to be a biomarker of disease severity. These findings contribute to understanding the dynamics of SCA7-related retinal dystrophy and may help lay the groundwork for future therapeutic intervention monitoring and clinical trials., Trial Registration: ClinicalTrials.gov Identifier: NCT04288128.
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- 2024
- Full Text
- View/download PDF
28. Stress-Induced Changes in Nucleocytoplasmic Localization of Crucial Factors in Gene Expression Regulation.
- Author
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Khamit A, Chakraborty P, Zahorán S, Villányi Z, Orvos H, and Hermesz E
- Subjects
- Infant, Newborn, Humans, Female, Pregnancy, Gene Expression Regulation, Transcription, Genetic, Poly(ADP-ribose) Polymerases, RNA, Messenger genetics, Transcription Factors, Endothelial Cells, Cone-Rod Dystrophies
- Abstract
This study investigates the toxic effect of harmful materials, unfiltered by the placenta, on neonatal umbilical cord (UC) vessels, focusing on stress-induced adaptations in transcriptional and translational processes. It aims to analyze changes in pathways related to mRNA condensate formation, transcriptional regulation, and DNA damage response under maternal smoking-induced stress. UC vessels from neonates born to smoking (Sm) and nonsmoking mothers (Ctr) were examined. Immunofluorescence staining and confocal microscopy assessed the localization of key markers, including Transcription Complex Subunit 1 (CNOT1) and the largest subunit of RNA polymerase II enzyme (RPB1). Additionally, markers of DNA damage response, such as Poly(ADP-ribose) polymerase-1, were evaluated. In Sm samples, dissolution of CNOT1 granules in UC vessels was observed, potentially aiding stalled translation and enhancing transcription via RPB1 assembly and translocation. Control vessels showed predominant cytoplasmic RPB1 localization. Despite adaptive responses, Sm endothelial cells exhibited significant damage, indicated by markers like Poly(ADP-ribose) polymerase-1. Ex vivo metal treatment on control vessels mirrored Sm sample alterations, emphasizing marker roles in cell survival under toxic exposure. Maternal smoking induces specific molecular adaptations in UC vessels, affecting mRNA condensate formation, transcriptional regulation, and DNA damage response pathways. Understanding these intricate molecular mechanisms could inform interventions to improve neonatal health outcomes and mitigate adverse effects of toxic exposure during pregnancy.
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- 2024
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29. Sturge Weber syndrome and rod cone dystrophy.
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Ganne P, Mootha VV, Mahindrakar A, and Adusumilli H
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- Humans, Seizures, Sturge-Weber Syndrome complications, Sturge-Weber Syndrome diagnostic imaging, Cone-Rod Dystrophies
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- 2024
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30. Development and Validation of a Novel Mobility Test for Rod-Cone Dystrophies: From Reality to Virtual Reality.
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Authié CN, Poujade M, Talebi A, Defer A, Zenouda A, Coen C, Mohand-Said S, Chaumet-Riffaud P, Audo I, and Sahel JA
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- Humans, Reproducibility of Results, Prospective Studies, Cone-Rod Dystrophies, Retinitis Pigmentosa diagnosis, Virtual Reality
- Abstract
Purpose: To validate a novel mobility test (MOST, MObility Standardized Test) and performance outcomes in real (RL) and virtual (VR) environments to be used for interventional clinical studies in order to characterize vision impairment in rod-cone dystrophies, also known as retinitis pigmentosa (RP)., Design: Prospective, interventional, noninvasive, reliability and validity analysis., Methods: We designed MOST to be used in both VR and RL and conducted 3 experimental studies with 89 participants to (1) validate the difficulty of the mobility courses (15 controls), (2) determine the optimal number of light levels and training trials (14 participants with RP), and (3) validate the reproducibility (test-retest), reliability (VR/RL), sensitivity, and construct/content validity of the test (30 participants with RP and 30 controls). A comprehensive ophthalmologic examination was performed in all subjects. Outcomes of interest included MOST performance score, visual acuity, contrast sensitivity, dark adaptation thresholds, visual field parameters, and correlation between the performance score and visual function., Results: The mobility courses exhibited statistically similar difficulty, and 5 trials are sufficient to control for the learning effect. MOST is highly reproducible (test-retest correlations >0.98) and reliable (correlations VR/RL = 0.98). MOST achieved a discrimination between participants with RP and controls (accuracy >95%) and between early and late stages of the disease (82.3% accuracy). The performance score is correlated with visual function parameter (0.57-0.94)., Conclusion: MOST is a validated mobility test, with the controlled learning effect, excellent reproducibility, and high agreement between RL and VR conditions, as well as sensitivity and specificity to measure disease progression and therapeutic benefit in rod-cone dystrophies., (Copyright © 2023 Elsevier Inc. All rights reserved.)
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- 2024
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31. Clinical Features of a Pediatric Case with Cone Dystrophy
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Lokman Balyen and Tuncay Küsbeci
- Subjects
retinal degeneration ,cone-rod dystrophies ,visual impairment ,electroretinography. ,Medicine - Abstract
The cone dystrophy is a nonhomogenous group of inherited and progressive retinal diseases that affects chiefly the cone system. It is frequently characterized by progressive loss of visual acuity, photophobia, central scotoma, color vision disturbances, and morphologic macular changes together with low response or unresponsiveness in photopic electroretinography (ERG). A girl, 9 years of age, presented with progressive visual loss, photophobia, and falling school performance. ERG revealed severe cone dysfunction with both cone and cone flicker responses (photopic) in both eyes. However, rod and rod-cone combined responses (scotopic) were evaluated at normal limits in both eyes. Fundus photography, colour vision testing, fundus autofluorescence, optical coherence tomography, ERG, visual evoked potential (VEP), Sweep VEP were performed the patient. This case report may provide clinical and diagnostic information for clinicians and may contribute to a better understanding of cone dystrophies in clinical practice. The diagnosis of cone dystrophies should be done with careful anamnesis and detailed ophthalmologic examination. With early diagnosis, there is a chance of early rehabilitation. Low vision rehabilitation is very significant because of the progressive nature of this disease, the lack of effective treatment, and the fact that the vision of the patients during the active term of school and working life are drastically affected. This case report shows that ERG can be used as a quite beneficial clinical test in terms of early and differential diagnosis of cone dystrophies.
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- 2018
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32. The Natural History of Leber Congenital Amaurosis and Cone–Rod Dystrophy Associated with Variants in the GUCY2D Gene
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Leo C. Hahn, Michalis Georgiou, Hind Almushattat, Mary J. van Schooneveld, Emanuel R. de Carvalho, Nieneke L. Wesseling, Jacoline B. ten Brink, Ralph J. Florijn, Birgit I. Lissenberg-Witte, Ine Strubbe, Caroline van Cauwenbergh, Julie de Zaeytijd, Sophie Walraedt, Elfride de Baere, Rajarshi Mukherjee, Martin McKibbin, Magda A. Meester-Smoor, Alberta A.H.J. Thiadens, Saoud Al-Khuzaei, Engin Akyol, Andrew J. Lotery, Maria M. van Genderen, Jeannette Ossewaarde-van Norel, L. Ingeborgh van den Born, Carel B. Hoyng, Caroline C.W. Klaver, Susan M. Downes, Arthur A. Bergen, Bart P. Leroy, Michel Michaelides, Camiel J.F. Boon, Ophthalmology, Adult Psychiatry, Human Genetics, ANS - Complex Trait Genetics, ARD - Amsterdam Reproduction and Development, Epidemiology and Data Science, APH - Methodology, Human genetics, and Netherlands Institute for Neuroscience (NIN)
- Subjects
genetic structures ,Cone-rod dystrophy ,Inherited retinal dystrophies ,Vision Disorders ,Visual Acuity ,BIOSTATISTICS ,PHENOTYPE ,EYE ,Leber congenital amaurosis ,eye diseases ,Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12] ,Cone–rod dystrophy ,Ophthalmology ,VISION ,TRIALS ,Phenotype ,GUCY2D ,Medicine and Health Sciences ,Humans ,sense organs ,TUTORIAL ,MUTATION ,Cone-Rod Dystrophies ,Retrospective Studies - Abstract
Objective: To describe the spectrum of Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) associated with the GUCY2D gene and to identify potential end points and optimal patient selection for future therapeutic trials.Design: International, multicenter, retrospective cohort study.Subjects: Eighty-two patients with GUCY2D-associated LCA or CORD from 54 families.Methods: Medical records were reviewed for medical history, best-corrected visual acuity (BCVA), ophthalmoscopy, visual fields, full-field electroretinography, and retinal imaging (fundus photography, spectral -domain OCT [SD-OCT], fundus autofluorescence).Main Outcomes Measures: Age of onset, evolution of BCVA, genotype-phenotype correlations, anatomic characteristics on funduscopy, and multimodal imaging.Results: Fourteen patients with autosomal recessive LCA and 68 with autosomal dominant CORD were included. The median follow-up times were 5.2 years (interquartile range [IQR] 2.6-8.8 years) for LCA and 7.2 years (IQR 2.2-14.2 years) for CORD. Generally, LCA presented in the first year of life. The BCVA in patients with LCA ranged from no light perception to 1.00 logarithm of the minimum angle of resolution (logMAR) and remained relatively stable during follow-up. Imaging for LCA was limited but showed little to no structural degeneration. In patients with CORD, progressive vision loss started around the second decade of life. The BCVA declined annually by 0.022 logMAR (P < 0.001) with no difference between patients with the c.2513G>A and the c.2512C>T GUCY2D variants (P = 0.798). At the age of 40 years, the probability of being blind or severely visually impaired was 32%. The integrity of the ellipsoid zone (EZ) and that of the external limiting membrane (ELM) on SD-OCT correlated signifi-cantly with BCVA (Spearman r = 0.744, P = 0.001, and r = 0.712, P < 0.001, respectively) in those with CORD.Conclusions: Leber congenital amaurosis associated with GUCY2D caused severe congenital visual impairment with relatively intact macular anatomy on funduscopy and available imaging, suggesting long pres-ervation of photoreceptors. Despite large variability, GUCY2D-associated CORD generally presented during adolescence, with a progressive loss of vision, and culminated in severe visual impairment during mid-to-late adulthood. The integrity of the ELM and EZ may be suitable structural end points for therapeutic studies of GUCY2D-associated CORD. Ophthalmology Retina 2022;6:711-722 (c) 2022 by the American Academy of Ophthalmology. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/ licenses/by-nc-nd/4.0/).
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- 2022
33. Peripapillary vessel density in eyes with cone-rod dystrophy.
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Shinozuka M, Arai M, Hirayama Y, Uechi Y, Kawasaki S, Okawa K, Iwashita Y, Miyazato M, Hirono K, Nakamura K, Inoue T, Asaoka R, Yanagi Y, Maruyama-Inoue M, and Kadonosono K
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- Humans, Fluorescein Angiography methods, Retinal Vessels diagnostic imaging, Tomography, Optical Coherence methods, Cone-Rod Dystrophies, Optic Disk diagnostic imaging, Optic Disk blood supply
- Abstract
Purpose: To compared the vessel density (VD) around the optic nerve head (ONH) in eyes with cone-rod dystrophy (CORD) and healthy control eyes in a sector-wise manner and to investigate the relationship between VD around the ONH and visual function in CORD eyes., Methods: Twenty-six eyes in 14 CORD patients and 25 eyes in 25 healthy control subjects were examined. Using OCT angiography images, the VDs in the superficial and deep capillary plexus at the macula (sVDm and dVDm) and those around the ONH in the superior, temporal, inferior and nasal region (VDnh_s, VDnh_t, VDnh_i, and VDnh_n, respectively) were measured for each eye. Patient age, visual acuity (VA) and VDs were then compared between two groups. Moreover, the relationships between VA and the VDs were analyzed using a linear mixed model and AICc model selection., Results: No significant difference in age was seen between the CORD and control groups (p = 0.87, Wilcoxon rank sum test), but the VA was significantly lower in the CORD group (p<0.0001). Both sVDm and dVDm were significantly lower in the CORD eyes than in the control eyes (both p<0.0001). Among VDnh_s, VDnh_t, VDnh_i, and VDnh_n, however, only VDnh_t differed significantly between the CORD and control groups (p = 0.035). Among age, VDnh_t, dVDm, and sVDm, the optimal model for VA included only VDnh_t and dVDm., Conclusions: In addition to the VD in the deep capillary plexus at the macula, the measurement of temporal VD around the ONH might be useful for predicting visual function in eyes with CORD., Competing Interests: The authors have no competing interests., (Copyright: © 2024 Shinozuka et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)
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- 2024
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34. Timing of Maternal COVID-19 Vaccine and Antibody Concentrations in Infants Born Preterm.
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Kachikis A, Pike M, Eckert LO, Roberts E, Frank Y, Young AL, Goecker E, Gravett MG, Greninger AL, and Englund JA
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- Infant, Pregnancy, Infant, Newborn, Female, Humans, Adult, Male, COVID-19 Vaccines, Prospective Studies, SARS-CoV-2, Antibodies, Viral, Premature Birth, COVID-19 prevention & control, Cone-Rod Dystrophies
- Abstract
Importance: COVID-19 vaccine-derived antibodies in pregnant people may protect infants from severe infection in the first 6 months of life via transplacental antibody transfer. Few data exist on maternally derived SARS-CoV-2 antibodies in preterm compared with full-term infants in association with vaccination timing., Objective: To compare SARS-CoV-2 anti-Spike (anti-S) antibody levels in preterm and full-term infants in the context of vaccine dose timing before delivery., Design, Setting, and Participants: This prospective cohort study enrolled pregnant individuals and collected paired maternal and cord blood samples at delivery at the University of Washington between February 1, 2021, and January 31, 2023. Participants who had received at least 2 doses of a messenger RNA COVID-19 vaccine before delivery and did not have a history of prior COVID-19 infection or detectable anti-SARS-CoV-2 nucleocapsid antibodies were included., Exposures: Timing of the last vaccine dose and preterm or full-term gestational age at delivery., Main Outcomes and Measures: Paired maternal and cord samples were tested for anti-S antibody, and linear regression was used to evaluate associations between preterm delivery and anti-S antibody levels. Covariates included timing of last dose, number of doses, insurance status, and immunosuppressing medications., Results: A total of 220 participants (median [IQR] age, 34 [32-37] years; 212 [96.4%] female) with 36 preterm and 184 full-term deliveries were studied. Before delivery, 121 persons received 2 vaccine doses and 99 persons received 3 or more vaccine doses. The geometric mean concentration of maternal anti-S antibodies was 674 (95% CI, 577-787) after 2 doses and 8159 (95% CI, 6636-10 032) after 3 or more doses (P < .001). The cord anti-S antibody geometric mean concentration was 1000 (95% CI, 874-1144) after 2 doses and 9992 (95% CI, 8381-11 914) after 3 or more doses (P < .001). After adjustment for vaccine timing and number of doses before delivery, no association was found between preterm delivery and cord anti-S antibody levels (β = 0.44; 95% CI, -0.06 to 0.94)., Conclusions and Relevance: In this prospective cohort study of pregnant individuals with preterm and full-term deliveries, receipt of 3 or more compared with 2 doses of COVID-19 vaccine before delivery resulted in 10-fold higher cord anti-S antibody levels. Maternal antibody concentration appeared more important than delivery gestational age in determining cord anti-S antibody levels. The number of doses and timing considerations for COVID-19 vaccine in pregnancy should include individuals at risk for preterm delivery.
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- 2024
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35. HIGH MYOPIA IS COMMON IN PATIENTS WITH X-LINKED RETINOPATHIES: Myopic Maculopathy Analysis.
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Huang L, Lai Y, Sun L, Li S, and Ding X
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- Female, Humans, Eye Proteins genetics, Eye Diseases, Hereditary genetics, Myopia complications, Myopia diagnosis, Myopia genetics, Retinitis Pigmentosa complications, Retinitis Pigmentosa diagnosis, Retinitis Pigmentosa genetics, Refractive Errors, Cone-Rod Dystrophies, Macular Degeneration
- Abstract
Purpose: High myopia can occur as a single or syndromic condition. The aim of this study was to evaluate the refractive error and myopic maculopathy in patients with X-linked retinopathies., Methods: Whole exome sequencing, Sanger sequencing, and comprehensive ocular examinations were performed in patients with X-linked retinopathies., Results: A total of 17 patients were recruited, including six with CACNA1F, seven with RPGR, three with NYX, and one with OPN1MW mutations. The diagnoses were congenital stationary night blindness (6), cone-rod dystrophy (4), retinitis pigmentosa (4), achromatopsia (1), Leber congenital amaurosis (1), and myopia (1). Myopia was present in 88.2% patients, and 64.7% patients had high myopia. Gene analysis showed that high myopia was present in 80% patients with CACNA1F, 100% patients with NYX, and 57.1% patients with RPGR mutations. In the ATN classification, 64.7% of the patients were A1T0N0 and 35.3% were A0T0N0. The refractive errors progressed over time, even in patients with congenital stationary night blindness. Two females with heterozygous de novo RPGR mutations presented with retinitis pigmentosa or cone rod dystrophy combined with high myopia., Conclusion: High myopia is common in patients with X-linked retinopathies, and myopic maculopathy was only mild atrophy without traction and neovascularization., (Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the Opthalmic Communications Society, Inc.)
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- 2024
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36. Novel pathogenic variants in Tubulin Tyrosine Like 5 ( TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype.
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Kolawole OU, Gregory-Evans CY, Bikoo R, Huang AZ, and Gregory-Evans K
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- Humans, Retinal Cone Photoreceptor Cells, Tomography, Optical Coherence, Tubulin, Phenotype, Tyrosine, Carrier Proteins, Cone Dystrophy, Retinal Dystrophies, Cone-Rod Dystrophies
- Abstract
Purpose: Autosomal recessive cone and cone-rod dystrophies (CD/CRD) are inherited forms of vison loss. Here, we report on and correlate the clinical phenotypes with the underlying genetic mutations., Methods: Clinical information was collected from subjects, including a family history with a chart review. They underwent a full ophthalmic examination, including best-corrected visual acuity, direct and indirect ophthalmoscopy, color vision testing, color fundus photography, contrast sensitivity, autofluorescence, and spectral domain-optical coherence tomography (SD-OCT), and full-field electroretinography. Next-generation panel-based genetic testing was used to identify DNA variants in subject buccal swab samples., Results: Genetic testing in two patients revealed three novel variants in the TTLL5 gene associated with CD/CRD: two missense variants (c.1433G>A;p.(Arg478Gln), c.241C>G;p.(Leu81Val), and one loss-of-function variant (c.2384_2387del;p.(Ala795Valfs*9). Based on in-silico analysis, structural modeling, and comparison to previously reported mutations, these novel variants are very likely to be disease-causing mutations. Combining retinal imaging with SD-OCT analysis, we observed an unusual sheen in the CD/CRD phenotypes., Conclusion: Based on the protein domain location of novel TTLL5 variants and the localization of TTLL5 to the connecting cilium, we conclude that the CD/CRD disease phenotype is characterized as a ciliopathy caused by protein tracking dysfunction. This initially affects cone photoreceptors, where photoreceptor cilia express a high level of TTLL5, but extends to rod photoreceptors over time. Fundus photography correlated with SD-OCT imaging suggests that the macular sheen characteristically seen with TTLL5 mutations derives from the photoreceptor's outer segments at the posterior pole., (Copyright © 2023 Molecular Vision.)
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- 2023
37. Double Hyperautofluorescence Rings as a Sign of CFAP410-related Retinopathy.
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Li X, Wang Y, Wang J, Wang P, and Zhang Q
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- Humans, Fundus Oculi, Retina, Cytoskeletal Proteins, Cone-Rod Dystrophies, Retinal Dystrophies, Retinitis Pigmentosa
- Abstract
Purpose: Variants in CFAP410 have been reported to cause retinal dystrophy with or without systemic symptoms. This study was designed to characterize the fundus changes of patients with biallelic variants in CFAP410., Methods: Variants in CFAP410 were identified through whole exome sequencing and targeted exome sequencing of 10,530 probands. Biallelic variants in CFAP410 were evaluated by comprehensive in silico analysis and confirmed by Sanger sequencing and segregation analysis. Ocular phenotypes including fundus photographs, scanning laser ophthalmoscopy, autofluorescence images, ERG, and optical coherence tomography were characterized., Results: Nine patients from eight families were homozygotes or compound heterozygotes for a total of four variants in CFAP410, including c.144-6_159del (novel), c.340_351dup, c.347C>T, and c.545+1G>A. Three patients were diagnosed with cone-rod dystrophy, and the remaining six patients with RP. Among eight patients performed with ultra-wide scanning laser ophthalmoscopy, double hyperautofluorescence rings inside and outside of the macular vascular arcades were observed in six patients, and the remaining two older patients demonstrated single hyperautofluorescence ring surrounded by pigmentation. CFAP410-associated retinopathy in early stage was generally tapetoretinal degeneration without noticeable bone spicule pigmentation, with more severe degeneration in the inferior nasal retina. ERG recordings delineated a severely reduced cone response and mildly to severely reduced rod response. Posterior staphyloma was seen in seven patients who underwent optical coherence tomography examinations., Conclusions: The present study demonstrates the fundus characteristics of patients with biallelic variants in CFAP410 and expands the genotype-phenotype spectrum of CFAP410-related retinal degeneration, in which posterior staphyloma together with double hyperautofluorescence rings might be common peculiar signs.
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- 2023
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38. Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.
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Daich Varela M, Conti GM, Malka S, Vaclavik V, Mahroo OA, Webster AR, Tran V, and Michaelides M
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- Humans, Infant, Child, Preschool, Child, Adolescent, Young Adult, Adult, Middle Aged, Aged, Aged, 80 and over, Prevalence, Retrospective Studies, Retina, Eye Proteins genetics, Membrane Proteins, Nerve Tissue Proteins, Retinal Detachment, Retinal Dystrophies, Retinitis Pigmentosa, Cone-Rod Dystrophies, Vision, Low
- Abstract
Purpose: To describe the largest, most phenotypically and genetically diverse cohort of patients with inherited retinal disease (IRD)-related Coats-like vasculopathy (CLV)., Design: Multicenter retrospective cohort study., Participants: A total of 67 patients with IRD-related CLV., Methods: Review of clinical notes, ophthalmic imaging, and molecular diagnosis from 2 international centers., Main Outcome Measures: Visual function, retinal imaging, management, and response to treatment were evaluated and correlated., Results: The prevalence of IRD-related CLV was 0.5%; 54% of patients had isolated retinitis pigmentosa (RP), 21% had early-onset severe retinal dystrophy, and less frequent presentations were syndromic RP, sector RP, cone-rod dystrophy, achromatopsia, PAX6-related dystrophy, and X-linked retinoschisis. The overall age of patients at CLV diagnosis was 30.7 ± 16.9 years (1-83). Twenty-one patients (31%) had unilateral CLV, and the most common retinal features were telangiectasia, exudates, and exudative retinal detachment (ERD) affecting the inferior and temporal retina. Macular edema/schisis was observed in 26% of the eyes, and ERD was observed in 63% of the eyes. Fifty-four patients (81%) had genetic testing, 40 of whom were molecularly solved. Sixty-six eyes (58%) were observed, 17 eyes (15%) were treated with a single modality, and 30 eyes (27%) had a combined approach. Thirty-five eyes (31%) were "good responders," 42 eyes (37%) were "poor responders," 22 eyes (19%) had low vision at baseline and were only observed, and 12 eyes (11%) did not have longitudinal assessment. Twenty-one observed eyes (62%) responded well versus 14 (33%) treated eyes. Final best-corrected visual acuity was significantly worse than baseline (P = 0.002); 40 patients (60%) lost 15 ETDRS letters or more over follow-up in 1 or both eyes, and 21 patients (31%) progressed to more advanced stages of visual impairment., Conclusions: Inherited retinal disease-related CLV is rare, sporadic, and mostly bilateral; there is no gender predominance, and it can occur in diverse types of IRD at any point of the disease, with a mean onset in the fourth decade of life. Patients with IRD-related CLV who have decreased initial visual acuity, ERD, CLV changes affecting 2 or more retinal quadrants, and CRB1-retinopathy may be at higher risk of a poor prognosis., Financial Disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article., (Copyright © 2023 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)
- Published
- 2023
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39. RPGR-Associated Cone-Rod Degeneration and Tapetal-Like Reflex in a Male Patient.
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Cortinhal T and Marques JP
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- Humans, Male, Eye Proteins, Reflex, Cone-Rod Dystrophies, Retinitis Pigmentosa
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- 2023
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40. Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of
- Author
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Robert A, Hyde, Evelina, Kratunova, Jason C, Park, and J Jason, McAnany
- Subjects
Amelogenesis Imperfecta ,Electroretinography ,Retinal Cone Photoreceptor Cells ,Humans ,Dark Adaptation ,Cation Transport Proteins ,Cone-Rod Dystrophies ,Photic Stimulation ,Article - Abstract
PURPOSE: To evaluate retinal function in a family presenting with Jalili syndrome due to a previously unreported variant in CNNM4. METHODS: A family of three sisters with a novel CNNM4 variant, c.482T>C p.(Leu161Pro), and ten visually normal, age-similar controls participated in this study. The subjects underwent detailed dental examinations and comprehensive ophthalmological examinations that included color vision testing, retinal imaging, and electroretinography. Full-field light- and dark-adapted luminance thresholds were obtained, in addition to light- and dark-adapted measures of the pupillary light reflex (PLR; pupil constriction elicited by a flash of light) across a range of stimulus luminance. RESULTS: Clinical findings of cone dysfunction and amelogenesis imperfecta were observed, consistent with Jalili syndrome. Light-adapted ERGs were non-detectable in CNNM4 subjects, whereas dark-adapted ERGs were generally normal. Full-field luminance thresholds were normal under dark-adapted conditions and were elevated, but measurable, under light-adapted conditions. The CNNM4 subjects had large PLRs under dark-adapted conditions and responses near the lower limit of normal, or slightly subnormal, under light-adapted conditions. CONCLUSION: CNNM4 variants can result in Jalili syndrome with cone dystrophy and generally preserved rod function. The PLR may be a useful measure for evaluating cone function in these individuals, as robust cone-mediated PLRs were recordable despite non-detectable light-adapted ERGs.
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- 2023
41. The effect of SARS-CoV-2 variant on respiratory features and mortality
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Thomas D. Hughes, Ajan Subramanian, Rana Chakraborty, Shannon A. Cotton, Maria Del Pilar Giraldo Herrera, Yong Huang, Natalie Lambert, Melissa D. Pinto, Amir M. Rahmani, Carmen Josefa Sierra, and Charles A. Downs
- Subjects
Multidisciplinary ,SARS-CoV-2 ,Prevention ,Vaccination ,COVID-19 ,Vaccine Related ,Infectious Diseases ,Good Health and Well Being ,Clinical Research ,Pneumonia & Influenza ,Humans ,Immunization ,Larynx ,Infection ,Lung ,Cone-Rod Dystrophies - Abstract
SARS-CoV-2 (COVID-19) has caused over 80 million infections 973,000 deaths in the United States, and mutations are linked to increased transmissibility. This study aimed to determine the effect of SARS-CoV-2 variants on respiratory features, mortality, and to determine the effect of vaccination status. A retrospective review of medical records (n = 55,406 unique patients) using the University of California Health COvid Research Data Set (UC CORDS) was performed to identify respiratory features, vaccination status, and mortality from 01/01/2020 to 04/26/2022. Variants were identified using the CDC data tracker. Increased odds of death were observed amongst unvaccinated individuals and fully vaccinated, partially vaccinated, or individuals who received any vaccination during multiple waves of the pandemic. Vaccination status was associated with survival and a decreased frequency of many respiratory features. More recent SARS-CoV-2 variants show a reduction in lower respiratory tract features with an increase in upper respiratory tract features. Being fully vaccinated results in fewer respiratory features and higher odds of survival, supporting vaccination in preventing morbidity and mortality from COVID-19.
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- 2023
42. IRIS PILOT - Extended Pilot Study With a Retinal Implant System
- Author
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Intelligent Medical Implants GmbH
- Published
- 2010
43. The use of mesenchymal stem cells for the treatment of progressive retinal diseases: a review.
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Borkowska-Kuczkowska, Agnieszka, Sługocka, Dominika, Świątkowska-Flis, Beata, and Boruczkowski, Dariusz
- Abstract
Some ocular diseases, such as dystrophies, retinal and macular degeneration, optic nerve atrophy, and Stargardt disease, are progressive and irreversible. In this review, we focus on the use of mesenchymal stem cells (MSCs) in the treatment of these diseases. In animal studies, MSC transplantation significantly delayed retinal degeneration, led to the regeneration of cone cells, and supported the survival of retinal ganglion cells and axon regeneration. In clinical practice, patients with Behcet's disease with retinal vasculitis who received MSC injections experienced a decrease in retinal vasculitis but no improvement in vision acuity. Nonetheless, there is no evidence that MSCs are carcinogenic, and they even reduce the size of tumors in vitro. Furthermore, MSCs do not trigger the immune response. [ABSTRACT FROM AUTHOR]
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- 2019
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44. Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family
- Author
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Yafang Wang, Shu Liu, Xiaodong Sun, Xiaoling Wan, Wenqiu Wang, Yuanqi Zhai, Fenghua Wang, and Yang Liu
- Subjects
Proband ,China ,Photophobia ,genetic structures ,DNA Mutational Analysis ,RPGR ,medicine.disease_cause ,symbols.namesake ,medicine ,Animals ,Humans ,Eye Proteins ,Exome sequencing ,Sanger sequencing ,Genetics ,Mutation ,business.industry ,Research ,Cone-rod dystrophy ,Dystrophy ,General Medicine ,Retinitis pigmentosa GTPase regulator ,RE1-994 ,eye diseases ,Pedigree ,Ophthalmology ,HEK293 Cells ,Color Vision Defects ,symbols ,Female ,medicine.symptom ,business ,Cone-Rod Dystrophies ,Retinitis Pigmentosa - Abstract
Background Cone-rod dystrophy (CORD) is a group of inherited retinal dystrophies, characterized by decreased visual acuity, color vision defects, photophobia, and decreased sensitivity in the central visual field. Our study has identified a novel pathogenic variant associated with X-linked cone-rod dystrophy (XLCORD) in a Chinese family. Methods All six family members, including the proband, affected siblings, cousins and female carriers, have underwent thorough ophthalmic examinations. The whole exome sequencing was performed for the proband, followed by Sanger sequencing for spilt-sample validation. A mammalian expression vector (AAV-MCS) with mutated retinitis pigmentosa GTPase regulator (RPGR) sequence was expressed in HEK293 T cells. The mutated protein was verified by Western blotting and immunohistochemistry. Results A novel mutation in the RPGR gene (c.2383G > T, p.E795X) is identified to be responsible for CORD pathogenesis. Conclusions Our findings have expanded the spectrum of CORD-associated mutations in RPGR gene and serve as a basis for genetic diagnosis for X-linked CORD.
- Published
- 2021
45. Foveal Hypoplasia in CRB1 -Related Retinopathies.
- Author
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Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, and Moosajee M
- Subjects
- Humans, Retrospective Studies, Retina, Eye Proteins genetics, Membrane Proteins genetics, Nerve Tissue Proteins genetics, Retinal Dystrophies genetics, Macular Degeneration, Retinitis Pigmentosa genetics, Leber Congenital Amaurosis, Cone-Rod Dystrophies, Eye Abnormalities
- Abstract
The CRB1 gene plays a role in retinal development and its maintenance. When disrupted, it gives a range of phenotypes such as early-onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA), retinitis pigmentosa (RP), cone-rod dystrophy (CORD) and macular dystrophy (MD). Studies in CRB1 retinopathies have shown thickening and coarse lamination of retinal layers resembling an immature retina. Its role in foveal development has not yet been described; however, this retrospective study is the first to report foveal hypoplasia (FH) presence in a CRB1 -related retinopathy cohort. Patients with pathogenic biallelic CRB1 variants from Moorfields Eye Hospital, London, UK, were collected. Demographic, clinical data and SD-OCT analyses with FH structural grading were performed. A total of 15 (48%) patients had EOSRD/LCA, 11 (35%) MD, 3 (9%) CORD and 2 (6%) RP. FH was observed in 20 (65%; CI: 0.47-0.79) patients, all of whom were grade 1. A significant difference in BCVA between patients with FH and without was found ( p = 0.014). BCVA continued to worsen over time in both groups ( p < 0.001), irrespective of FH. This study reports FH in a CRB1 cohort, supporting the role of CRB1 in foveal development. FH was associated with poorer BCVA and abnormal retinal morphology. Nonetheless, its presence did not alter the disease progression.
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- 2023
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46. Evaluating of neonatal early onset sepsis through lactate and base excess monitoring.
- Author
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Yilmaz A, Kaya N, Gonen I, Uygur A, Perk Y, and Vural M
- Subjects
- Infant, Newborn, Humans, Lactic Acid, Case-Control Studies, Blood Gas Analysis, Neonatal Sepsis diagnosis, Sepsis diagnosis, Cone-Rod Dystrophies
- Abstract
Early-onset sepsis (EOS) is one of the leading causes of neonatal death and morbidity worldwide and timely initiation of antibiotic therapy is, therefore, of paramount importance. This study aimed to evaluate the predictive effect of lactate and base excess (BE) values in the cord arterial blood gas and the 6th hour of life venous blood gas analysis on clinical sepsis in newborns. This is a cohort case-control study. In this study, 104 cases were divided into clinical and suspected sepsis groups according to the evaluation at the 24th hour after delivery. Lactate and BE values were evaluated in the cord arterial blood gas analysis (ABGA) and at the postnatal 6th-hour venous blood gas. The cord ABGA and postnatal 6th-hour results were compared in the clinical and suspected sepsis groups. Clinical sepsis was found to be associated with a lactate value above 2 mMol/L at postnatal 6th-hour venous blood gas (p = 0.041). This association was the highest when the clinical sepsis group's postnatal 6th-hour lactate cut-off value was determined as 3.38 mMol/L (sensitivity 57.9% and specificity 68.5%) (p = 0.032). However, no association was found between clinical sepsis diagnosis and venous BE's value in cord ABGA at the postnatal 6th hour. We found that a venous lactate value above 3.38 mMol/L at the postnatal 6th hour was the cut-off value that could indicate early-onset clinical sepsis. However, none of the biomarkers used in diagnosing EOS can accurately show all cases., (© 2023. Springer Nature Limited.)
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- 2023
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- View/download PDF
47. COVID-19 Infection during Pregnancy: Disruptions in Lipid Metabolism and Implications for Newborn Health.
- Author
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Frankevich N, Tokareva A, Chagovets V, Starodubtseva N, Dolgushina N, Shmakov R, Sukhikh G, and Frankevich V
- Subjects
- Infant, Newborn, Pregnancy, Child, Humans, Female, Infant Health, Lipid Metabolism, Pandemics, Sphingomyelins, Tandem Mass Spectrometry, Amniotic Fluid, Mothers, COVID-19, Cone-Rod Dystrophies
- Abstract
The COVID-19 pandemic has raised questions about indirect impact in pregnant women on the development of their future children. Investigating the characteristics of lipid metabolism in the "mother-placenta-fetus" system can give information about the pathophysiology of COVID-19 infection during pregnancy. A total of 234 women were included in study. Maternal plasma, cord blood, and amniotic fluid lipidome were analyzed using HPLC-MS/MS. Differences in lipid profile were searched by Mann-Whitney and Kruskall-Wallis test, and diagnostic model based on logistic regression were built by AIC. Elevated levels of lysophospholipids, triglycerides, sphingomyelins, and oxidized lipids were registered in patients' maternal and cord plasma after COVID-19 infection. An increase in maternal plasma sphingomyelins and oxidized lipids was observed in cases of infection during the second trimester. In amniotic fluid, compared to the control group, nine lipids were reduced and six were elevated. Levels of phosphoglycerides, lysophosphoglycerides, and phosphatidylinositols decreased during infection in the second and third trimesters of pregnancy. A health diagnostic model for newborns based on maternal plasma was developed for each group and exhibited good diagnostic value (AUC > 0.85). Maternal and cord plasma's lipidome changes during delivery, which are associated with COVID-19 infection during pregnancy, are synergistic. The most significant disturbances occur with infections in the second trimester of pregnancy.
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- 2023
- Full Text
- View/download PDF
48. Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes.
- Author
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Daich Varela M, Georgiadis A, and Michaelides M
- Subjects
- Humans, Child, Preschool, Rhodopsin genetics, Retina, Genotype, Mutation, Eye Proteins genetics, Bestrophins genetics, Retinitis Pigmentosa genetics, Retinitis Pigmentosa therapy, Cone-Rod Dystrophies
- Abstract
Inherited retinal diseases (IRDs) have been in the front line of gene therapy development for the last decade, providing a useful platform to test novel therapeutic approaches. More than 40 clinical trials have been completed or are ongoing, tackling autosomal recessive and X-linked conditions, mostly through adeno-associated viral vector delivery of a normal copy of the disease-causing gene. However, only recently has autosomal dominant (ad) disease been targeted, with the commencement of a trial for rhodopsin ( RHO )-associated retinitis pigmentosa (RP), implementing antisense oligonucleotide (AON) therapy, with promising preliminary results (NCT04123626).Autosomal dominant RP represents 15%-25% of all RP, with RHO accounting for 20%-30% of these cases. Autosomal dominant macular and cone-rod dystrophies (MD/CORD) correspond to approximately 7.5% of all IRDs, and approximately 35% of all MD/CORD cases, with the main causative gene being BEST1 Autosomal dominant IRDs are not only less frequent than recessive, but also tend to be less severe and have later onset; for example, an individual with RHO -adRP would typically become severely visually impaired at an age 2-3 times older than in X-linked RPGR -RP.Gain-of-function and dominant negative aetiologies are frequently seen in the prevalent adRP genes RHO , RP1 and PRPF31 among others, which would not be effectively addressed by gene supplementation alone and need creative, novel approaches. Zinc fingers, RNA interference, AON, translational read-through therapy, and gene editing by clustered regularly interspaced short palindromic repeats/Cas are some of the strategies that are currently under investigation and will be discussed here., Competing Interests: Competing interests: The authors alone are responsible for the content and writing of this article. MM consults for MeiraGTx Ltd and TG is MeiraGTx Ltd staff., (© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2023
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49. POLYPOIDAL CHOROIDAL VASCULOPATHY ASSOCIATED WITH SECTOR RETINITIS PIGMENTOSA.
- Author
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Appanraj R, Manayath GJ, Verghese S, and Narendran V
- Subjects
- Female, Humans, Middle Aged, Polypoidal Choroidal Vasculopathy, Neovascularization, Pathologic, Choroid, Cone-Rod Dystrophies, Retinitis Pigmentosa complications, Retinitis Pigmentosa diagnosis
- Abstract
Purpose: To report a case of polypoidal choroidal vasculopathy associated with sector retinitis pigmentosa., Methods: Case report., Results: A 63-years-old woman presented with complaints of having painless progressive reduction of vision in the left eye (LE) for the past 6 months. On examination, her best-corrected visual acuity was 20/20 in the right eye and 20/125 in the LE. Based on fundus examination and multimodal imaging findings, both eyes were diagnosed to have sector retinitis pigmentosa, and an associated active extramacular polypoidal choroidal vasculopathy was seen in the LE. Spectral-domain optical coherence tomography also revealed choroidal thinning in both eyes. Patient underwent bevacizumab injection in the LE. At 1-month posttreatment, her best-corrected visual acuity remained stable in the LE, and spectral-domain optical coherence tomography showed reduction in subretinal fluid and size of the polypoidal lesion., Conclusion: Polypoidal choroidal vasculopathy, a pachychoroid disease, could occur in association with retinitis pigmentosa, in the setting of thin choroids, and multimodal imaging is important to differentiate it from Type-1 macular neovascularization.
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- 2023
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50. Pontomedullary junction as a reference for spinal cord cross-sectional area: validation across neck positions.
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Bédard S, Bouthillier M, and Cohen-Adad J
- Subjects
- Humans, Reproducibility of Results, Spine, Spinal Cord Diseases, Spinal Cord Injuries, Cone-Rod Dystrophies, Spondylosis
- Abstract
Spinal cord cross-sectional area (CSA) is an important MRI biomarker to assess spinal cord atrophy in various neurodegenerative and traumatic spinal cord diseases. However, the conventional method of computing CSA based on vertebral levels is inherently flawed, as the prediction of spinal levels from vertebral levels lacks reliability, leading to considerable variability in CSA measurements. Computing CSA from an intrinsic neuroanatomical reference, the pontomedullary junction (PMJ), has been proposed in previous work to overcome limitations associated with using a vertebral reference. However, the validation of this alternative approach, along with its variability across and within participants under variable neck extensions, remains unexplored. The goal of this study was to determine if the variability of CSA across neck flexions/extensions is reduced when using the PMJ, compared to vertebral levels. Ten participants underwent a 3T MRI T2w isotropic scan at 0.6 mm
3 for 3 neck positions: extension, neutral and flexion. Spinal cord segmentation, vertebral labeling, PMJ labeling, and CSA were computed automatically while spinal segments were labeled manually. Mean coefficient of variation for CSA across neck positions was 3.99 ± 2.96% for the PMJ method vs. 4.02 ± 3.01% for manual spinal segment method vs. 4.46 ± 3.10% for the disc method. These differences were not statistically significant. The PMJ method was slightly more reliable than the disc-based method to compute CSA at specific spinal segments, although the difference was not statistically significant. This suggests that the PMJ can serve as a valuable alternative and reliable method for estimating CSA when a disc-based approach is challenging or not feasible, such as in cases involving fused discs in individuals with spinal cord injuries., (© 2023. Springer Nature Limited.)- Published
- 2023
- Full Text
- View/download PDF
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