266 results on '"Falcão-Reis F"'
Search Results
52. Retinoblastoma: experience of a referral center in the North Region of Portugal.
- Author
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da Rocha-Bastos, R.A., Araújo, J. R., Gil-da-Costa, M. J., Brandão, E., Farinha, N. J., Falcão-Reis, F., and Dinah-Bragança, T.
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RETINOBLASTOMA ,OPHTHALMOLOGY ,STRABISMUS ,ENUCLEATION of the eye ,DIAGNOSIS - Abstract
Purpose: To describe the experience of the Ophthalmology Department of Hospital São João (HSJ), a tertiary health care center in North Region, Portugal, in terms of the diagnosis, treatment, and follow-up of retinoblastoma. Methods: This was a retrospective study of patients diagnosed with retinoblastoma in Hospital São João, between 1978 and 2012. Results: Fifty patients with retinoblastoma were evaluated in our institution between 1978 and 2012. Four patients were excluded due to loss of follow-up. Among the 46 retinoblastoma cases, 33 (71.7%) were unilateral and 13 (28.3%) bilateral, with a mean age at diagnosis of 22.19 months and 6.92 months, respectively (P<0.001). Leukocoria was the most common presenting sign (36.9%), followed by strabismus (19.6%), a combination of leukocoria and strabismus (8.7%), and buphthalmia (2.2%). Between 1978 and 1992, nine retinoblastoma cases were referred to our hospital, all of them unilateral, and, in each case, enucleation was performed, with or without salvage therapy. Between 1993 and 2012, 18 eyes with retinoblastoma were successfully managed with conservative treatment. Conclusion: Demographic results were generally coincident with previous reports. It is crucial to screen leukocoria in pediatric practice, even in asymptomatic children. The outcome of retinoblastoma treatment in our hospital is similar to other series in developed countries. [ABSTRACT FROM AUTHOR]
- Published
- 2014
- Full Text
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53. Patient empowerment by the means of citizen-managed electronic health records: Web 2.0 health digital identity scenarios.
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Falcão-Reis F and Correia ME
- Published
- 2010
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- View/download PDF
54. ETB2 Receptor Subtype Stimulation Relaxes the Iris Sphincter Muscle.
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Rocha-Sousa, A., Saraiva, J., Amaral, M., Alves-Faria, P., Falcão-Reis, F., and Leite-Moreira, A. F.
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SPHINCTERS ,MUSCLE contraction ,LABORATORY rabbits ,ANIMAL models in research ,INDOMETHACIN ,CYCLOOXYGENASE 2 inhibitors ,PROSTAGLANDIN synthesis - Abstract
Effects of ETB receptor stimulation and its subcellular pathways were evaluated in carbachol pre-contracted rabbit iris sphincter muscles (n=51). ETB stimulation with sarafotoxin (SRTX-c; 10
-10 -10-6 M) was tested in the absence (n=7) or presence of 10-5 M of: BQ-788 (ETB2 receptor antagonist; n=6), L-NA (NOS inhibitor; n=7) or indomethacin (cyclooxygenase inhibitor; n=10). Effects of ETB stimulation by endothelin-1 (ET-1; 10-10 - 10-7 M) in the presence of an ETA receptor antagonist (BQ-123; 10-5 M; n=7) and of ETB1 stimulation by IRL-1620 (10-10 -10-7 M; n=7) were also tested. Finally, the effects of SRTX-c (10-9-10-7 M) in electric field stimulation (EFS) contraction were evaluated (n=7). ETB receptor stimulation by SRTX-c or ET-1 in presence of BQ-123 promoted a concentration-dependent relaxation of the rabbit iris sphincter muscle by 10.8±2.0 % and 9.4±1.8 %, respectively. This effect was blocked by BQ-788 (-2.3±2.0 %), L-NA (4.5±2.3 %) or indomethacin (2.3±2.9 %). Selective ETB1 stimulation by IRL-1620 did not relax the iris sphincter muscle (0.9±5.4 %). EFS elicited contraction was not altered by SRTX-c. In conclusion, ETB receptor stimulation relaxes the carbachol precontracted iris sphincter muscle, an effect that is mediated by the ETB2 receptor subtype, through NO and the release of prostaglandins. [ABSTRACT FROM AUTHOR]- Published
- 2009
55. Access and privacy rights using Web security standards to increase patient empowerment.
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Falcão-Reis F, Costa-Pereira A, and Correia ME
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- 2008
56. The pattern electroretinogram in glaucoma and ocular hypertension.
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O'Donaghue, E, Arden, G B, O'Sullivan, F, Falcão-Reis, F, Moriarty, B, Hitchings, R A, Spilleers, W, Hogg, C, and Weinstein, G
- Abstract
Thirty one eyes with established glaucoma, 61 high risk ocular hypertensive (OHTs) eyes, 66 medium risk OHT eyes, 58 low risk OHT eyes, and 47 control eyes have been followed for up to 2 years by clinical examination and pattern electroretinography (PERG). The study was 'masked' so electrophysiological and clinical data were kept separate. Criteria have been devised which enable PERG measurements to distinguish all established glaucomatous eyes from all normal controls; these criteria demonstrate abnormalities in some OHT eyes, particularly those at high risk. The PERG abnormality is greatest in eyes with established glaucoma in which the intraocular pressure has been lowered by treatment. The PERG becomes smaller as the degree of clinical abnormality increases. Test-retest variability of the PERG is sufficiently low to ensure that most of those first described as abnormal continue to be so. [ABSTRACT FROM PUBLISHER]
- Published
- 1992
57. Peripheral contrast sensitivity in glaucoma and ocular hypertension.
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Falcão-Reis, F, O'Donoghue, E, Buceti, R, Hitchings, R A, and Arden, G B
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Contrast sensitivity has been measured in patients with glaucoma and ocular hypertension, the latter graded into high, medium, and low risk clinical groups. Measurements were made centrally and peripherally at 10 degrees, 15 degrees, 20 degrees, and 25 degrees off-axis at each of the four meridians 45 degrees, 135 degrees, 225 degrees, and 315 degrees. A sine wave grating of 1.9 cycles/degree, reversing at 1 Hz was used. It was displayed on a 100-Hz refresh rate monitor. Normal values were established to compare those from 41 eyes from patients with either primary open angle glaucoma (POAG) with minimal field loss detectable on a Humphrey perimeter, or raised IOP and/or disc changes but no field loss (OH). Those with POAG had normal central contrast sensitivity, but at 20 degrees and 25 degrees eccentricity the values were greater than 2 standard deviations above the normal mean. This was also the case for high risk OH, but not for low risk patients. All the high risk patients except one who had abnormal peripheral contrast sensitivity had possible field defects (threshold elevation at one or more points more than 5 but less than 10 dB above normal mean). Only one of those with normal peripheral contrast sensitivity had such 'suspect points'. The results are assessed in terms of screening of glaucoma suspects. [ABSTRACT FROM PUBLISHER]
- Published
- 1990
58. Immediate effect of intravitreal injection of bevacizumab on intraocular pressure
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Lemos-Reis R, Moreira-Gonçalves N, Melo AB, Carneiro AM, and Falcão-Reis FM
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Ophthalmology ,RE1-994 - Abstract
Ricardo Lemos-Reis,1 Nuno Moreira-Gonçalves,1 António B Melo,1 Ângela M Carneiro,1,2 Fernando M Falcão-Reis1,2 1Department of Ophthalmology of Hospital de São João, Porto, Portugal; 2Department of Sense Organs, Faculty of Medicine, University of Porto, Porto, Portugal Purpose: To investigate the immediate effect of intravitreal injection of bevacizumab on intraocular pressure (IOP). Methods: This was a prospective and nonrandomized study. A total of 291 eyes with macular edema or active choroidal neovascularization were submitted to a single 1.25 mg (0.05 mL) bevacizumab intravitreal injection. Intraocular pressure was measured with an Icare® tonometer immediately before and after injection in a seated position. The presence of subconjunctival reflux was recorded. The fellow eye served as the control.Results: Mean preoperative IOP was 18.0±5.9 mmHg in the treated eye versus 16.9±6.0 mmHg in the fellow eye. Mean postoperative IOP was 42.1±14.5 mmHg in the treated eye versus 17.5±6.0 mmHg in the fellow eye. The IOP variation was statistically significant in both cases and controls (P
- Published
- 2014
59. Choroidal and macular thickness changes induced by cataract surgery
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Falcão MS, Gonçalves NM, Freitas-Costa P, Beato JB, Rocha-Sousa A, Carneiro Â, Brandão EM, and Falcão-Reis FM
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Ophthalmology ,RE1-994 - Abstract
Manuel S Falcão,1,2 Nuno M Gonçalves,2 Paulo Freitas-Costa,1,3 João B Beato,2 Amândio Rocha-Sousa,1,2 Ângela Carneiro,1,2 Elisete M Brandão,2 Fernando M Falcão-Reis1,21Department of Sense Organs, Faculty of Medicine, University of Porto, 2Department of Ophthalmology of Hospital de São João, 3Department of Anatomy, Faculty of Medicine, University of Porto, Porto, PortugalBackground: The aim of this study was to evaluate the effect of uneventful phacoemulsification on the morphology and thickness of the macula, the submacular choroid, and the peripapillary choroid.Methods: In 14 eyes from 14 patients, retinal macular thickness, choroidal submacular thickness, and choroidal peripapillary thickness were measured preoperatively and at one week and one month after phacoemulsification using enhanced depth imaging spectral domain optical coherence tomography. Changes in thickness of the different ocular tissues were evaluated.Results: There was a statistically significant increase in mean retinal macular thickness at one month. In horizontal scans, the mean increase was +8.67±6.75 µm (P
- Published
- 2013
60. Comparative study of 1+PRN ranibizumab versus bevacizumab in the clinical setting
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Carneiro AM, Mendonça LS, Falcão MS, Fonseca SL, Brandão EM, and Falcão-Reis FM
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Ophthalmology ,RE1-994 - Abstract
Angela M Carneiro,1,2 Luis S Mendonça,1 Manuel S Falcão,1,2 Sofia L Fonseca,1 Elisete M Brandão,1 Fernando M Falcão-Reis1,21Department of Ophthalmology of Hospital de São João, Porto, Portugal; 2Faculty of Medicine of University of Porto, Porto, PortugalPurpose: We compared the efficacy of intravitreal ranibizumab and bevacizumab for treating neovascular age-related macular degeneration using an on-demand regimen.Methods: A total of 186 wet age-related macular degeneration eyes of 186 treatment-naïve patients were compared retrospectively (67 eyes treated with ranibizumab with 91 treated with bevacizumab). At baseline, mean age, best corrected visual acuity, and angiographic lesion types were similar in both groups. Best corrected visual acuity and ocular coherence tomography were evaluated.Results: Sixty eyes treated with ranibizumab and 85 eyes treated with bevacizumab completed a 12-month evaluation. At 12 months, mean best corrected visual acuity increased by +6.65 letters with ranibizumab treatment and by +5.59 with bevacizumab treatment (P = 0.64). Visual acuity improved by ≥15 letters in 15 eyes treated with ranibizumab and in 21 eyes treated with bevacizumab (P = 0.75). An overall reduction in ocular coherence tomography central thickness occurred for all time points. The mean number of injections per eye was 5.97 with ranibizumab and 5.92 with bevacizumab (P = 0.90).Conclusion: Intravitreal therapies with ranibizumab or bevacizumab have similar visual and anatomical results. These results confirm those of comparison of Age-Related Macular Degeneration Treatment Trials in as-needed cohorts in clinical practice. Randomized long-term clinical trials are necessary to examine the systemic safety of these treatments.Keywords: AMD, anti-VEGF therapy, bevacizumab, choroidal neovascularization, ranibizumab, wet AMD
- Published
- 2012
61. Evaluation of antiangiogenic treatment results in choroidal neovascularization related to pathological myopia,Avaliação dos resultados do tratamento antiangiogénico na neovascularização coroideia associada à miopia patológica
- Author
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Carvalho, B., Freitas-Costa, P., Pinheiro-Costa, J., Falcão, M., Carneiro, A., and Falcão-Reis, F.
62. On the strengthening of openid authentication mecanisms with the Portuguese citizen card
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Falcão-Reis, F., Almeida, D., and Manuel Eduardo Correia
63. Identification of XLRS1 gene mutation (608C>T) in a Portuguese family with juvenile retinoschisis
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Teixeira, C., Amândio Rocha-Sousa, Trump, D., Brandão, E., and Falcão-Reis, F.
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03 medical and health sciences ,Ophthalmology ,0302 clinical medicine ,genetic structures ,030221 ophthalmology & optometry ,sense organs ,General Medicine ,eye diseases ,030217 neurology & neurosurgery - Abstract
Purpose To characterize electroretinogram (ERG) and molecular genetic findings in a family with XLRS1 mutation. The authors present two cases of a Portuguese family with juvenile retinoschisis with a mutation in exon 6. Methods Two brothers and their parents, grandmother, and uncle underwent a full ophthalmic examination. The two brothers with ophthalmic disease were evaluated with color fundus photography, fluorescein angiography, optical coherence tomography (OCT), molecular genetic study (Group VI of Retinoschisis Consortium), pattern visual evoked potential (PVEP), and full field ERG. Results Both patients presented funduscopic manifestations of vitreoretinal degeneration. They presented peripheral schisis and retinal detachment. However, foveal schisis had never been observed at funduscopy. A negative ERG was recorded in both. Six months after that, the younger brother showed a typical foveal schisis at fundus examination. A retinoschisis gene (XLRS1) mutation with transition of cytosine by thymine at position 608 (608C>T) had been identified in both. Conclusions Negative ERG is the most secure clinical marker to establish the diagnosis of juvenile retinoschisis. XLRS1 gene 608C>T mutation was described for the first time in a Portuguese family.
64. Congenital dacryocystocele with intranasal extension
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Teixeira, C. C., Dias, R. J., Falcão-Reis, F. M., and Santos, M.
65. Amiodarone and optic neuropathy
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Domingues, M. F., Henrique Barros, and Falcão-Reis, F. M.
66. ETB2 receptor subtype stimulation relaxes the iris sphincter muscle
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Amândio Rocha-Sousa, Saraiva, J., Amaral, M., Alves-Faria, P., Falcão-Reis, F., and Leite-Moreira, A. F.
67. Evaluation of antiangiogenic treatment results in choroidal neovascularization related to pathological myopia | Avaliação dos resultados do tratamento antiangiogénico na neovascularização coroideia associada à miopia patológica
- Author
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Carvalho, B., Freitas-Costa, P., Pinheiro-Costa, J., Falcão, M., Ângela Carneiro, and Falcão-Reis, F.
68. Long-Term Management of Polypoidal Choroidal Vasculopathy in Clinical Practice.
- Author
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Matos, R., Marques, J., Beato, J., Pedrosa, A., Pinheiro-Costa, J., Falcão, M., Falcão-Reis, F., and Carneiro, Â.
- Subjects
POLYPOIDAL choroidal vasculopathy ,NEOVASCULARIZATION ,VISUAL acuity - Abstract
Introduction/Background: Polypoidal Choroidal Vasculopathy (PCV) is a disease characterized by a branching vascular network of choroidal vessels with polyp-like structures that lead to recurrent serous leakage and/or hemorrhage. The pathogenesis of PCV is not yet fully understood and its optimal management requires further clarification. Methods: Retrospective case series included 25 eyes of 23 patients with PCV. Primary end-points were best-corrected visual acuity (BCVA) and presence of fluid on optical coherence tomography (OCT) at last visit. Central retinal thickness (CRT) and subfoveal choroidal thickness (SFCT), as well as pigment epithelium detachment (PED) and polyps course were also analysed. Results: Median follow-up time was 48 (range 7-70) months. At diagnosis, exudative phenotype was detected in 72% of the eyes. At last visit, median BCVA showed a nonsignificant increase of 8 letters (P = 0.601). Baseline and final BCVA were significantly associated (r = 0.683) and phenotype at diagnosis was the most relevant predictor of BCVA (P = 0.037). A statistically significant decrease in CFT occurred (170 μm; P = 0.002) and 90% of the eyes showed a reduction of fluid on OCT. The median SFCT was significantly reduced (P = 0.018). There was an improvement of the PED on OCT in 80% of the eyes and a resolution of the polyps in 57.1%. Conclusions: Clinical phenotype at diagnosis was found to be the most relevant predictor of final BCVA in our patients with PCV. Acknowledgements: We wish to thank to orthoptists of Hospital São João. [ABSTRACT FROM AUTHOR]
- Published
- 2016
69. A Case of Best Vitelliform Macular Dystrophy Caused by BEST1 Autosomal Recessive Intronic Mutations.
- Author
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Pedrosa, A., Faria, O., Santos-Silva, R., Carneiro, Â., Silva, S., and Falcão-Reis, F.
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GENETICS of retinal degeneration ,MISSENSE mutation ,OPTICAL coherence tomography - Abstract
Introduction/Background: Best vitelliform macular dystrophy (BVMD) is a monogenic disorder caused by mutations in the BEST1 gene, that presents in childhood and is characterized by a reduced electro-oculogram and accumulation of yellowish material between the retinal pigment epithelium and photoreceptors in the macula. In the great majority of cases, BVMD is inherited in an autosomal dominant manner and is associated with missense mutations which result in the substitution of a single aminoacid in the protein sequence. Methods: We describe a case of autosomal-recessive BVMD caused by a homozygous mutation in intron 7 of the BEST1 gene originating a splice site variant. The results of two years of follow up are presented, including spectral domain optical coherence tomography (SD-OCT), electrophysiological tests and genetical analysis. Results: A female child presented to our Ophthalmology Department at five years of age, with suspected diminished vision. Her medical history was unremarkable and there was no family history of serious ophthalmologic diseases. Best corrected visual acuity was 20/100 in the right eye (RE) and 20/30 in the left eye (LE). Fundus examination revealed bilateral yellowish lesions in the macula. SD-OCT demonstrated vitelliform hyperreflective material in the subretinal space, but, in the RE, there was also subretinal fibrosis associated with subretinal and intraretinal fluid, suggestive of choroidal neovascularization. The electro-oculogram showed a severely reduced Arden ratio (OD = 0.88, OE = 0.71) while the electro-retinogram was normal. Genetical analysis identified a homozygous intronic mutation in the BEST1 gene (c.868-2A>G). Both parents were also found to be carriers of the same mutation, although their clinical examination revealed no evidence of Best disease. The patient is now seven years old and, because visual acuity remained stable, no treatment has been performed. Conclusions: Although rare, BVMD can also be inherited in an autosomal recessive manner and can be caused by splice site variants. Acknowledgements: None. [ABSTRACT FROM AUTHOR]
- Published
- 2016
70. When a Red Eye Is a Red Flag: A Nontraumatic Case of a Direct Carotid-Cavernous Fistula.
- Author
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Ribeiro M, Oliveira J, Meira J, Soares-Dos-Reis R, Silva ML, Albuquerque L, Falcão-Reis F, and Barbosa-Breda J
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- Humans, Male, Female, Middle Aged, Cerebral Angiography, Magnetic Resonance Imaging, Carotid-Cavernous Sinus Fistula diagnosis, Carotid-Cavernous Sinus Fistula complications, Carotid-Cavernous Sinus Fistula diagnostic imaging
- Abstract
Competing Interests: The authors report no conflicts of interest.
- Published
- 2024
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71. WHEN THE PICTURE MASKS THE DIAGNOSIS - AN ATYPICAL AND SEVERE GIANT CELL ARTERITIS CASE REPORT.
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Moleiro AF, Vilares-Morgado R, Falcão-Reis F, and Torres-Costa S
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- Humans, Aged, Male, Giant Cell Arteritis diagnosis
- Abstract
Purpose: The purpose of this study was to describe an atypical and severe case of giant cell arteritis (GCA)., Methods: This was a case report description., Results: The authors report the case of a 76-year-old man who presented with severe and progressive bilateral visual loss. On presentation at the ophthalmology emergency room, the patient's right eye (OD) displayed aqueous flare, hyphema, rubeosis iridis , and dense posterior capsular opacification. After YAG laser capsulotomy, vitreous densifications, intraretinal hemorrhages, cotton wool spots, retinal ischemia, and vasculitis were observed in the fundoscopy. The patient's left eye (OS) also presented intraretinal hemorrhages and cotton wool spots around the temporal arcades. The diagnostic workup excluded infectious diseases, demyelinating diseases, and ocular ischemic syndrome due to carotid obstruction. Proteinogram revealed a monoclonal gammopathy, suggesting a possible hematologic condition. High-dose corticotherapy was initiated, which improved the vitreous densifications and enabled the visualization of the pale optic disk. The remaining study did not confirm the diagnosis of hematologic disease. During follow-up, bilateral VA deteriorated, with the development of progressive pallor in the OS optic disk. Follow-up fluorescein angiography demonstrated progressive retinal and choroidal ischemia. Finally, owing to high clinical suspicion, temporal artery Doppler ultrasound was performed, confirming the diagnosis of GCA., Conclusion: GCA may present multiple ocular features. The knowledge of these different presentations, including retinal and choroidal ischemia or uveitis, is critical for timely diagnosis and treatment initiation. Since patients with GCA often present with vision loss, ophthalmologists may be the first medical doctors who contact with these patients, being on the frontline of GCA diagnosis., Competing Interests: Conflict of interest statement: The authors have no financial disclosure to declare. This work did not receive any grants or funds support., (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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72. Trends and patterns in pediatric ophthalmology and strabismus surgeries: a decade review from a leading Portuguese university hospital.
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Freitas-da-Costa P, Falcão-Reis F, and Magalhães A
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- Humans, Child, Portugal epidemiology, Retrospective Studies, Child, Preschool, Male, Female, Esotropia surgery, Strabismus surgery, Ophthalmologic Surgical Procedures trends, Hospitals, University, Ophthalmology trends, Oculomotor Muscles surgery
- Abstract
Purpose: Strabismus and Pediatrics Ophthalmology surgeries are pivotal in addressing early-onset visual disorders. An 11-year retrospective study at a tertiary hospital center aimed to elucidate evolving surgical trends, focusing on esotropia cases., Methods: The surgical records from January 2009 to January 2020 were analyzed according to the baseline diagnosis. Esotropia cases were evaluated based on the patients' deviation types, surgical techniques, and pre-operative characteristics. A total of 2050 surgeries were performed over the study period., Results: Strabismus surgery accounts for 70% of the department's surgical activity. A trend toward a decrease in esotropia surgeries and a proportional increase in exotropia surgeries was noticeable. Esotropia cases, with a median surgical age of 6 years (p25-p75, 4-10) and uniform gender distribution (females, 54.8%), predominantly involved high angular deviations. Posterior fixation sutures emerged as the preferred surgical technique for esotropia., Conclusion: The study's insights, while aligning with prior European research, introduce new dimensions to the understanding of strabismus surgeries, emphasizing the significance of early interventions, evolving surgical preferences, and the challenges posed by severe deviations.
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- 2024
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73. Ocular severe involvement in oculofaciocardiodental syndrome: Description of a case series.
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Moleiro AF, Oliveira JS, Grangeia A, Faria P, Falcão-Reis F, Magalhães A, and Silva SE
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- Humans, Female, Adult, Child, Repressor Proteins genetics, Proto-Oncogene Proteins genetics, Cataract complications, Glaucoma complications, Ocular Hypertension complications
- Abstract
Background: Oculofaciocardiodental (OFCD) syndrome is a rare genetic disorder affecting ocular, facial, dental, and cardiac systems, being an X-linked condition caused by pathogenic variants in the BCL-6 corepressor gene ( BCOR ). We report a case series of three female patients with OFCD syndrome with severe glaucoma., Results: Three female patients with OFCD syndrome with different variants involving BCOR gene, in heterozygosity: a seven-years-old girl with an insertion (c.2037_2038dupCT), a nine years-old girl with a microdeletion in the X (p21.2-p11.4)) spanning the BCOR gene; and a 25 years-old female with a deletion (c.3858_3859del). Systemic involvement is variable among patients ranging from one patient mainly with ocular and dental involvement to one with associated intra-auricular and intra-ventricular defects. All the patients presented with congenital cataracts diagnosed in the first days of life. Cataract surgery was performed without incidents between 6 and 16 weeks of age in all the patients. Postoperatively, the three patients developed ocular hypertension and glaucoma with the need for surgical interventions, including trabeculectomy, Ahmed valve implantation, and cyclophotocoagulation., Conclusion: OFCD syndrome characterizes by a severe ocular involvement with glaucoma as a characteristic feature. Ocular hypertension after cataract surgery in these patients is challenging, almost always needing surgery during childhood. Therefore, we consider BCOR disruption may predispose to a higher incidence of glaucoma due to its aggressiveness and early onset on our case series. The awareness of these complications is crucial to an adequate follow-up of the patients., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
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- 2024
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74. What to expect from primary inferior oblique overaction after esotropia surgery : Primary inferior oblique overaction in esotropia.
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Freitas-da-Costa P, Alves H, Santos-Silva R, Falcão-Reis F, Breda J, and Magalhães A
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- Humans, Treatment Outcome, Ophthalmologic Surgical Procedures methods, Retrospective Studies, Oculomotor Muscles surgery, Vision, Binocular physiology, Esotropia surgery, Ocular Motility Disorders, Muscular Diseases, Orbital Diseases, Strabismus surgery
- Abstract
Background: Overelevation in adduction is common in patients with primary esotropia. This study evaluates the variation in ocular motility pattern in patients with primary inferior oblique (IO) muscle overaction after esotropia surgery., Methods: The medical records of consecutive patients who underwent surgery for infantile, partially accommodative, and basic esotropia over eleven years and had at least one year of follow-up were reviewed. Patients with primary inferior oblique muscle overaction (IOOA) presented at baseline or during follow-up were selected and divided according to the first surgery performed concurrently with horizontal rectus surgery: without IO recession (NO-recess), with unilateral IO recession (UNIL-recess), and with bilateral IO recession (BIL-recess). The success (version normalisation or at least 2 points upgrade in severity scale [0-4] in the operated eye), recurrence rates, and the evolution of the non-operated IO muscles were evaluated., Results: One hundred and ten patients were included - 53 NO-recess, 26 UNIL-recess, and 31 BIL-recess. Medial rectus muscle posterior fixation sutures surgery (PFS) was performed in 88.2% of patients for esotropia. A recession with graded anterior transposition was the weakening IO procedure. In the NO-recess group, 28 (52.8%) patients normalised their mild IOOA after PFS surgery alone. In the UNI-recess group, the success rate was 88.5%, with 16 (61.5%) patients showing worsened IO muscle of the fellow eye, which prompted additional surgery in 10 patients. In the BIL-recess group, all 31 patients improved the adduction pattern of the operated eye for an 80.6% success rate (6 improved marginally)., Conclusion: Graded anterior transposition of the inferior oblique muscle effectively normalises versions. However, it's frequent for a contralateral overaction to become manifest after unilateral IO surgery., (© 2023. The Author(s).)
- Published
- 2023
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75. Revisiting Posterior Fixation Sutures Surgery: Unveiling Novel Approaches for Primary Management of Diverse Esotropia Cases.
- Author
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Freitas-da-Costa P, Alves H, Santos-Silva R, Falcão-Reis F, Breda J, and Magalhães A
- Abstract
Introduction: Strabismus, specifically esotropia, presents a significant challenge in ophthalmic surgery, while several treatment options exist. This study aims to evaluate the results of posterior fixation sutures (PFS) on the medial rectus as a primary approach for some types of esotropia., Methods: The medical records of consecutive patients who underwent surgery for esotropia over 11 years and had at least 1 year of follow-up were reviewed retrospectively. Patients were classified into one of three types of deviation: infantile (IE), partially accommodative (PAE) and basic (BE) esotropias. An alignment within 16 prism diopters (PD) of orthotropia was a successful outcome., Results: A total of 404 patients were included: 67 IE, 180 PAE and 157 BE. Before surgery, a deviation greater than 30 PD was present in 88.1% and 80.1%, and a deviation greater than 50 PD was present in 66.5% and 52.9% of patients (near and distance, respectively). In the BE group, PFS was the baseline surgery in a smaller number of cases (75%) compared to the other two groups (versus 86.6% [IE] and 88.3% [PAE], p = 0.002). The need for an additional procedure was significantly higher in the infantile esotropia group (44.8% vs. 18.9% and 24.8%, p < 0.001). Final surgical success was achieved in 95.3% of all patients. Orthotropia was achieved in 19.4% (IE), 29.6% (PAE) and 25.5% (BE) of cases., Conclusion: PFS of the medial rectus without recession proved successful as a first-line procedure for esotropia in the subtypes of patients evaluated in this study., (© 2023. The Author(s).)
- Published
- 2023
- Full Text
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76. [Evaluation of the Manchester Triage System in Patients with Acute Primary Angle Closure Attack: A Retrospective Study].
- Author
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Ribeiro M, Barbosa-Breda J, Gonçalves F, Faria Pereira A, Falcão-Reis F, Alves F, E Silva S, and B Melo A
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- Humans, Female, Middle Aged, Aged, Aged, 80 and over, Male, Retrospective Studies, Intraocular Pressure, Emergency Service, Hospital, Acute Disease, Triage, Laser Therapy
- Abstract
Introduction: Acute primary angle closure attack is an ophthalmological emergency. The aim of this study was to describe the cases diagnosed in the Emergency Department, by correlating the initial complaint with the Manchester triage level and ultimately the time needed until ophthalmological evaluation and iridotomy., Material and Methods: Retrospective analysis of the electronic medical records of patients with acute primary angle closure attack that attended the Ophthalmology Emergency Department of our tertiary center between January 2010 and December 2020. Overall, 2228 Emergency Department episodes coded with the diagnoses glaucoma or ocular hypertension were retrieved, followed by screening of each episode for correct identification of true acute primary angle closure attacks. Clinical data was gathered, including Manchester triage level, presenting complaint, intraocular pressure at presentation, first medical specialty that observed the patient, time until observation by Ophthalmology and time until laser iridotomy., Results: Among the 120 patients identified, 84 (70%) were female and the mean age was 68 ± 12 years. Mean intraocular pressure at admission was 53.4 ± 12.4 mmHg, and 9.2% of patients presented only non-ocular complaints, while 9.2% presented mixed complaints (ocular and non-ocular). Most patients (68.1%) with only non-ocular or mixed complaints were triaged to a non-ophthalmologist (p < 0.001). Concerning the triage system, at admission, most patients (66.7%) were labelled yellow (urgent), while 9.2% and none were labelled as orange (very urgent) or red (emergent), respectively. Most patients (83.3%) were directly sent to Ophthalmology (properly triaged), while the remaining were incorrectly assigned to a non-ophthalmologist. Median time until observation by Ophthalmology was 49 minutes in the properly triaged group (min. 15, max. 404), while it was 288 minutes (min. 45, max. 871) in those who were incorrectly triaged (p < 0.001). Likewise, median time until treatment with laser iridotomy was 203 minutes in the properly triaged group (min. 22, max. 1440) and 353 minutes in the incorrectly triaged group (min.112, max. 947) (p < 0.001)., Conclusion: Most patients with acute primary angle closure attack were not properly triaged according to the level of the Manchester triage system. There was a significant delay in the diagnosis and treatment of those patients who were first assigned to non-ophthalmologists. There is a need to raise awareness regarding the presenting signs and symptoms of an acute primary angle closure attack in order to avoid preventable vision loss.
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- 2023
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77. Macular parameters with and without scleral contact lens in keratoconus using Spectralis optical coherence tomography.
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Pinheiro-Costa J, Ribeiro M, Moura R, Madeira D, Falcão-Reis F, and Carneiro Â
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- Humans, Tomography, Optical Coherence methods, Cornea diagnostic imaging, Sclera, Keratoconus diagnosis, Keratoconus therapy, Contact Lenses
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- 2023
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78. Two-Step Iridocorneal Endothelial Syndrome Management: Endocapsular Intraocular Lens and Artificial Iris Followed by Descemet's Stripping Automated Endothelial Keratoplasty.
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Pinheiro-Costa J, Coelho-Costa I, Falcão-Reis F, Monteiro T, and Falcão M
- Abstract
A 54-year-old female presented with complaints of glare and progressive visual loss OS with a corrected distance visual acuity (CDVA) OS of 20/100. The patient had grade 1 corneal edema with a "beaten bronze" appearance on specularly reflected light, pseudopolycoria, and a nuclear sclerotic cataract. The diagnosis of nuclear cataract and progressive iris atrophy iridocorneal endothelial (ICE) syndrome was made, and the patient underwent uneventful phacoemulsification with capsular bag placement of an AcrySof SA60AT intraocular lens combined with pseudopolycoria repair using an endocapsular Model A REPER artificial iris. Six months later, the patient was submitted to a Descemet's stripping automated endothelial keratoplasty (DSAEK) procedure, and 6 months after that the CDVA was 20/32 with no corneal edema and normal intraocular pressure. This two-step surgical approach, combining phacoemulsification and endocapsular foldable iris prosthesis placement followed by DSAEK, may be considered a promising option to successfully treat progressive iris atrophy ICE syndrome patients., Competing Interests: The authors have no conflicts of interest to declare., (© 2023 The Author(s). Published by S. Karger AG, Basel.)
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- 2023
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79. Serum inflammatory biomarkers are associated with increased choroidal thickness in keratoconus.
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Pinheiro-Costa J, Lima Fontes M, Luís C, Martins S, Soares R, Madeira D, Falcão-Reis F, and Carneiro Â
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- Humans, Case-Control Studies, Cross-Sectional Studies, Choroid, Inflammation, Neutrophils, Tumor Necrosis Factor-alpha, Interleukin-1, Retrospective Studies, Biomarkers, Lymphocytes, Interleukin-6, Keratoconus
- Abstract
Inflammation may play a significant role in Keratoconus (KC), but the relationship between inflammatory markers and choroidal thickness (CT) is unknown. The purpose of this study was to evaluate serum inflammatory markers and correlate them with the choroidal profile of KC patients and control subjects. Forty patients with KC and 26 age-matched control subjects were enrolled in a cross-sectional case-control study. Choroidal profile was studied with a Spectralis Heidelberg apparatus and venous blood samples were collected. Neutrophil/lymphocyte ratio (NLR), monocyte/HDL ratio (MHR), platelet/lymphocyte ratio (PLR) and systemic immune inflammation index (SII) were calculated. Serum inflammatory biomarkers IL-1, IL-6 and TNF-alfa were also analyzed. KC group presented thicker choroids in each evaluated point when compared to the control group (subfoveal CT 417.38 ± 79.79 vs 299.61 ± 76.13, p < 0.001 for all measured locations). Mean values of NLR, PLR and SII were significantly higher in patients with KC (NLR p = 0.001; PLR p = 0.042; SII p = 0.007). Although KC patients presented higher mean levels of MHR, IL-1, IL-6 and TNF-α than control group, no significant differences were achieved. Positive correlations were found between subfoveal CT and NLR and SII (0.408, p = 0.001 and 0.288, p = 0.019 respectively). The results presented are in favor of a relationship between the increased CT and inflammatory mechanisms in KC patients. The elevated serum inflammatory indices NLR, SII and PLR provide additional evidence of a role for systemic inflammation in the pathophysiology of KC., (© 2023. The Author(s).)
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- 2023
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80. New Promising Therapeutic Approach for Refractory Corneal Epithelial Defects.
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Vilares Morgado R, Moura R, Moreira R, Falcão-Reis F, and Pinheiro-Costa J
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The purpose of this case report is to describe a case of continuous wear of a gas-permeable mini-scleral contact lens with a fluid reservoir of autologous serum (AS) combined with AS drops as a successful empirical and accessible alternative therapeutic option for refractory persistent epithelial defects in a patient with severe neurotrophic keratopathy (NK) due to severe dry eye disease and chronic contact lens wear. A 61-year-old Caucasian female with bilateral NK presented a history of multiple episodes of bilateral persistent epithelial defects, having already been submitted to three tectonic-penetrating keratoplasties in her left eye (OS). In May 2017, the patient developed de novo refractory central neurotrophic ulcers in both eyes (OU), unresponsive to conventional treatment with preservative-free lubricants, topical antibiotics, topical anti-inflammatory agents, and oral doxycycline. By March 2018, after initiating hourly AS eyedrops, the ulcer in her right eye (OD) improved to a smaller ulcer, while her OS presented complete graft re-epithelialization. In May 2018, her OD neurotrophic ulcer was complicated with fungal and subsequent bacterial secondary infection. Eventually, a therapeutic penetrant keratoplasty was required for her OD. Subsequently, her OD graft developed a de novo 6x6mm central persistent epithelial defect unresponsive to all the aforementioned therapeutic strategies. After months of unsuccessful treatment, a new therapeutic option was experimented with: a gas-permeable mini-scleral contact lens in combination with AS eyedrops. After two weeks of this treatment regimen, the corneal epithelium eventually started to regenerate, and four weeks later, the cornea was completely re-epithelized. To date, there are no signs of recurrence of the corneal epithelial defect/ulcer., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Vilares Morgado et al.)
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- 2023
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81. Intravitreal Fluocinolone Acetonide Implant (FAc, 0.19 mg, ILUVIEN®) in the Treatment of Patients with Recurrent Cystoid Macular Edema After Pars Plana Vitrectomy.
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Lima-Fontes M, Leuzinger-Dias M, Barros-Pereira R, Fernandes V, Falcão M, Falcão-Reis F, Rocha-Sousa A, and Alves-Faria P
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Introduction: Postoperative cystoid macular edema (PCME) is a complication of several ocular procedures, including pars plana vitrectomy (PPV), due to the activation of the inflammatory cascade. The purpose of this case series is to evaluate the effectiveness and safety of fluocinolone acetonide intravitreal implant (FAc, 0.2 μg/day; ILUVIEN®) in the treatment of refractory PCME after successful PPV., Methods: This retrospective observational case series includes consecutive eyes of patients with recurrent PCME after PPV and treated with a single FAc implant at Centro Hospitalar Universitário de São João, Porto, Portugal. Previous treatments, best-corrected visual acuity (BCVA, ETDRS letters), central macular thickness (CMT, μm), intraocular pressure (IOP, mmHg), and IOP-lowering medication needed were recorded at baseline and during follow-up. Total macular edema resolution was defined as CMT less than 300 μm or a reduction of greater than 20%, and partial macular edema resolution was defined as a reduction of greater than 10%., Results: Nine eyes from nine patients were included. Before FAc implant, all eyes received intravitreal short-action corticosteroids (triamcinolone and dexamethasone implant), with a good response but relapse 1-5 months later. At baseline, BCVA was 55.0 ± 10.6 letters, CMT was 514.9 ± 165.6 μm, and IOP was 15.4 ± 2.4 mmHg with four eyes under IOP-lowering medication. After FAc implant, all eyes achieved edema resolution (eight total and one partial) with a peak gain of 17.2 letters and a maximum decrease of 208.2 μm in CMT. During follow-up (44.0 ± 14.8 months), 66.7% of the eyes kept their macula dry and three showed recurrence after 11, 14, and 28 months, respectively. The maximum IOP registered was 17.0 ± 6.0 mmHg. IOP-lowering regimen was increased in one eye and two additional eyes started hypotensive drops., Conclusion: FAc implant can be considered a therapeutic alternative in PCME refractory to other therapies in vitrectomized eyes, reducing the need for repeated treatments., (© 2022. The Author(s).)
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- 2023
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82. Retinal and choroidal vasoreactivity in central serous chorioretinopathy.
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Penas S, Araújo T, Mendonça AM, Faria S, Silva J, Campilho A, Martins ML, Sousa V, Rocha-Sousa A, Carneiro Â, and Falcão-Reis F
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- Humans, Fluorescein Angiography methods, Pilot Projects, Visual Acuity, Choroid pathology, Tomography, Optical Coherence methods, Retrospective Studies, Central Serous Chorioretinopathy diagnosis
- Abstract
Purpose: This study aims to investigate retinal and choroidal vascular reactivity to carbogen in central serous chorioretinopathy (CSC) patients., Methods: An experimental pilot study including 68 eyes from 20 CSC patients and 14 age and sex-matched controls was performed. The participants inhaled carbogen (5% CO
2 + 95% O2 ) for 2 min through a high-concentration disposable mask. A 30° disc-centered fundus imaging using infra-red (IR) and macular spectral domain optical coherence tomography (SD-OCT) using the enhanced depth imaging (EDI) technique was performed, both at baseline and after a 2-min gas exposure. A parametric model fitting-based approach for automatic retinal blood vessel caliber estimation was used to assess the mean variation in both arterial and venous vasculature. Choroidal thickness was measured in two different ways: the subfoveal choroidal thickness (SFCT) was calculated using a manual caliper and the mean central choroidal thickness (MCCT) was assessed using an automatic software., Results: No significant differences were detected in baseline hemodynamic parameters between both groups. A significant positive correlation was found between the participants' age and arterial diameter variation (p < 0.001, r = 0.447), meaning that younger participants presented a more vasoconstrictive response (negative variation) than older ones. No significant differences were detected in the vasoreactive response between CSC and controls for both arterial and venous vessels (p = 0.63 and p = 0.85, respectively). Although the vascular reactivity was not related to the activity of CSC, it was related to the time of disease, for both the arterial (p = 0.02, r = 0.381) and venous (p = 0.001, r = 0.530) beds. SFCT and MCCT were highly correlated (r = 0.830, p < 0.001). Both SFCT and MCCT significantly increased in CSC patients (p < 0.001 and p < 0.001) but not in controls (p = 0.059 and 0.247). A significant negative correlation between CSC patients' age and MCCT variation (r = - 0.340, p = 0.049) was detected. In CSC patients, the choroidal thickness variation was not related to the activity state, time of disease, or previous photodynamic treatment., Conclusion: Vasoreactivity to carbogen was similar in the retinal vessels but significantly higher in the choroidal vessels of CSC patients when compared to controls, strengthening the hypothesis of a choroidal regulation dysfunction in this pathology., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)- Published
- 2022
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83. Tocilizumab as a Useful Tool for Thyroid Eye Disease in Pediatric Population: A Case Report.
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Moleiro AF, Vilares-Morgado R, Alves GC, Rodrigues M, Falcão-Reis F, Magalhães A, Leal V, and Meira J
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Thyroid eye disease (TED) characterizes by inflammation and remodeling of orbital tissues. Although the majority of pediatric TED is mild, some children present progressive and severe disease. The approach to severe disease in this group of patients, especially when noncortico-responsive, is challenging. The purpose of this work was to describe the effective use of tocilizumab as second-line therapy in steroid-resistant pediatric TED. A 13-year-old female with a history of Graves' disease presented with right eye proptosis for at least 8 months associated with mild pain on eye movements and ocular surface complaints. The ophthalmologic evaluation revealed Hertel exophthalmometry readings of 22 mm on the right eye (OD) and 19 mm on the left (OS). The remaining ophthalmic examination was unremarkable. Intravenous methylprednisolone pulses of 500 mg were initiated without any improvement after 4 treatments. Following multidisciplinary team discussion, therapy was switched to monthly tocilizumab injections at 4 mg/kg. Significant reduction of proptosis and resolution of pain and ocular surface complaints were noted immediately after the treatment switch. Exophthalmometry readings after the end of treatment that included 4 tocilizumab injections were 20 mm on OD and 19 mm on OS. No side effects were reported during the entire follow-up. Six months after treatment cessation, the patient remains stable, without any signs of orbitopathy relapse and no ophthalmologic complaints. This is the second case report showing the effectiveness of tocilizumab in pediatric TED and the first one showing its efficacy when steroids fail. Our results support the potential safety and efficacy of this immunosuppressor in children with TED., Competing Interests: The authors have no conflicts of interest to declare., (Copyright © 2022 by The Author(s). Published by S. Karger AG, Basel.)
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- 2022
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84. Long-Term Effect of Anti-Vascular Endothelial Growth Factor (Anti-VEGF) Injections in Choroidal Neovascularization Secondary to Angioid Streaks.
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Torres-Costa S, Bernardes J, Mano SS, Medeiros-Pinto J, Abreu AC, Furtado MJ, Silva R, Marques-Neves C, Falcão-Reis F, Carneiro Â, Colaço L, and Falcão M
- Abstract
Purpose: This study aimed to evaluate the long-term effectiveness of intravitreal anti-vascular endothelial growth factor (VEGF) injections in the treatment of choroidal neovascularization (CNV) associated with angioid streaks., Methods: Multicenter retrospective cohort study, including eyes with CNV secondary to angioid streaks treated with anti-VEGF injections, were performed. Best-corrected visual acuity (BCVA) in ETDRS letters; qualitative and quantitative (foveal thickness) OCT parameters; anti-VEGF type; and number of injections were collected at baseline and at 3, 6, 12, 24, 36, 48, 60, and 72 months., Results: Thirty-nine eyes from 29 patients, 17 (58.6%) females, were included. The mean follow-up time was 69.4 ± 34.5 months. BCVA was 59.3 ± 23.3 letters at baseline and 63.7 ± 21.9 letters at 48 months. At 3 months, BCVA improved 6.9 ± 11.7 letters ( P =0.003). Then, BCVA remained stable. The mean foveal thickness decreased from 343.3 ± 120.2 μ m at baseline to 268.3 ± 65.4 at 48 months ( P =0.021). The mean number of injections was 4.6 ± 2.1 at 12 months, decreasing to 1.7 ± 2.4 injections between 36 and 48 months ( P =0.093)., Conclusion: This real-world study suggests that the functional and morphologic response to anti-VEGF therapy for CNV related to angioid streaks is generally satisfactory and maintained in the long term., Competing Interests: Manuel Falcão has participated in advisory boards for Bayer and has received travel grants from Novartis, Alimera, and Allergan. Ângela Carneiro has participated in advisory boards for Alcon, Bayer, Novartis, Alimera, Allergan, and Roche. The other authors report no conflicts of interest in this work., (Copyright © 2022 Sónia Torres-Costa et al.)
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- 2022
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85. Correlation Between Ophthalmologic and Neuroradiologic Findings in Type 1 Neurofibromatosis.
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Godinho G, Esteves-Leandro J, Alves G, Madeira C, Faria O, Brandão E, Magalhães A, Falcão-Reis F, and Penas S
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- Adolescent, Adult, Child, Choroid pathology, Female, Humans, Male, Retrospective Studies, Tomography, Optical Coherence methods, Young Adult, Hamartoma, Neurofibromatosis 1 complications, Neurofibromatosis 1 diagnosis, Neurofibromatosis 1 pathology, Optic Nerve Glioma pathology
- Abstract
Background: Neurofibromatosis Type 1 (NF-1) is a genetic disease affecting the eye, and ocular findings such as Lisch nodules (LN) or optic pathway gliomas (OPGs) are a part of its diagnostic criteria. Recent imaging technologies such as infrared (IR) imaging and optical coherence tomography (OCT) have highlighted the visualization of choroidal focal abnormalities in these patients, even in the absence of other ocular lesions. This study aimed to establish a morphological multimodal evaluation of choroidal findings in patients with NF-1, correlating them with central nervous system (CNS) findings., Methods: This retrospective study included 44 eyes from 22 patients with NF-1. Central 30° IR imaging was obtained, and the number and total area of detectable lesions were calculated. Both macular and optic disc scanning with OCT were performed, with and without the enhanced depth imaging technique, to assess the presence of choroidal focal hyperreflective lesions. Central macular thickness, ganglion cell layer, and outer nuclear layer thickness were assessed, as well as subfoveal choroidal thickness. The peripapillary retinal nerve fiber layer (RNFL) thickness was also assessed. Patients' magnetic resonance images (MRI) were reviewed and categorized by a neuroradiology specialist, determining the presence of OPGs and CNS hamartomas. Correlations between the ophthalmological and neuroradiological findings were established., Results: Patients' mean age was 16.4 ± 7.3 years and 59.1% were women. On the MRI, 86.4% of the patients had CNS hamartomas, and 34.1% of the eyes had OPGs. LN were described in 29.5% of the eyes, whereas a total of 63.4% of the eyes presented the characteristic hyperreflective lesions in IR imaging, all of them matching the underlying choroidal lesions. A mean of 2.9 ± 3.3 lesions per eye and a median total lesion area of 1.52 mm2 were found. The presence of OPGs was correlated with a greater number (P = 0.004) and a larger area (P = 0.006) of IR lesions. For a cut-off of 3.5 lesions per eye, the sensitivity and specificity for the presence of OPGs were 75% and 80%, respectively. For a total lesion area of 2.77 mm2, the sensitivity and specificity for the presence of OPGs were 69.2% and 93.1%, respectively. Eyes with OPGs presented a significant reduction in the temporal RNFL (P = 0.018) thickness, as well as a reduction in subfoveal choroid thickness (P = 0.04). No relations were found between CNS hamartomas and ophthalmological findings., Conclusions: This study suggests that focal choroidal abnormalities are correlated with the presence of CNS lesions as OPGs in patients with NF-1, and it might be a surrogate for the need for CNS imaging in these patients., Competing Interests: The authors report no conflicts of interest., (Copyright © 2021 by North American Neuro-Ophthalmology Society.)
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- 2022
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86. Longitudinal multimodal functional macular analysis after half-dose photodynamic therapy for central serous chorioretinopathy.
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Penas S, Beato J, Rosinha P, Araújo J, Costa A, Carneiro Â, Falcão-Reis F, and Rocha-Sousa A
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- Fluorescein Angiography, Follow-Up Studies, Humans, Photosensitizing Agents therapeutic use, Retina, Retrospective Studies, Tomography, Optical Coherence, Verteporfin therapeutic use, Visual Acuity, Central Serous Chorioretinopathy drug therapy, Photochemotherapy methods, Porphyrins
- Abstract
Background: Half-dose photodynamic therapy (HD-PDT) has been widely used for central serous chorioretinopathy (CSC) with good anatomical results. However, long-term functional outcomes after this treatment remain uncertain. This study aimed a longitudinal multimodal macular assessment, correlating functional and anatomical outcomes., Methods: This is a retrospective study performed in a tertiary referral center including 111 eyes from 95 CSC patients. Data on best corrected visual acuity (BCVA), central macular thickness (CMT), central retinal sensitivity (CRS) using microperimetry (MP) and multifocal electroretinography (mfERG) at baseline and 3, 6, 12, 18, 24, 36, 48 and 60 months after treatment were registered. A correlation analysis was performed., Results: Mean follow-up was 34.5 ± 26.3 months. A significant improvement in BCVA and CMT was registered in all the visits. CRS significantly improved until 24 months (p < 0.001 at 12 months, p < 0.05 at 24 months), worsening afterwards. The mfERG amplitude of N1 and P1 waves significantly improved in the first 12 months, aggravating afterwards. The implicit time improved until 24 months, deteriorating after 48 months. This long-term decline was also described in some inactive untreated fellow eyes CONCLUSIONS: A multimodal longitudinal analysis of CSC patients after HD-PDT shows that, after the first 12 to 24 months, the significant sustained improvement in BCVA and CMT is not paired by a sustained improvement in macular sensitivity or electrical response. This long-term functional deterioration might result from the disease itself and not directly from the treatment ., (Copyright © 2021. Published by Elsevier B.V.)
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- 2022
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87. Bilateral Episcleral Corkscrew Vessels: Expedition into the Unknown - Case Report.
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Madeira C, Alves G, Godinho G, Meira J, Leal V, Falcão M, Falcão-Reis F, and Barbosa Breda J
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We aim to report a case of a middle-aged woman with bilateral idiopathic elevated episcleral venous pressure (IEEVP) and its difficulties in the diagnostic approach. Particularly in this case, the atypical feature of ocular hypertension without glaucomatous optic nerve damage may be misleading. We present a 66-year-old woman with longstanding bilateral "red eyes." Clinical findings included bilateral episcleral vessel engorgement and tortuosity and raised intraocular pressure with open iridocorneal angles. Despite ocular hypertension, glaucomatous neuropathy was absent and confirmed by normal structural (optical coherence tomography) and functional (standard automated perimetry) tests. The systemic workup was unremarkable. Magnetic resonance angiography showed bilateral dilated superior ophthalmic veins. Cerebral digital subtraction angiography was requested, and no carotid-cavernous fistula (or other significant vascular findings) was identified. The diagnosis of IEEVP was assumed. In conclusion, our case highlights the systematic investigation necessary in cases of bilateral episcleral vessel engorgement and tortuosity and the possible differential diagnosis to be considered to rule out life-threatening causes of elevated episcleral venous pressure. It is important for clinicians to be aware of IEEVP even in patients with atypical features that despite significative ocular hypertension had no glaucomatous damage., Competing Interests: The authors have no conflicts of interest to declare., (Copyright © 2022 by S. Karger AG, Basel.)
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- 2022
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88. Quantitative Optical Coherence Tomography Angiography Biomarkers for Alport Syndrome.
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Cunha AM, Teixeira D, Cabral D, Estrela-Silva S, Falcão-Reis F, and Carneiro Â
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- Biomarkers, Cross-Sectional Studies, Fluorescein Angiography methods, Humans, Retinal Vessels pathology, Tomography, Optical Coherence methods, Visual Acuity, Macula Lutea, Nephritis, Hereditary diagnosis, Nephritis, Hereditary genetics, Nephritis, Hereditary pathology
- Abstract
Purpose: The aim of this study was to evaluate microvascular abnormalities of patients with Alport syndrome (AS) using optical coherence tomography angiography (OCT-A) quantitative biomarkers., Methods: This was cross sectional, prospective evaluation of consecutive patients with AS and healthy subjects. AS diagnosis was performed by the genetic test. All participants underwent a retinal vasculature evaluation by spectral-domain optical coherence tomography (SD-OCT) and OCT-A of the macula. Quantitative analysis included whole vascular density, foveal avascular zone area, fractal dimension (FD), and lacunarity (LAC)., Results: Ninety-four eyes were included in this study, 45 eyes from patients with AS and 49 eyes from healthy subjects. The pathogenic mutation in the COL4A5 gene on the chromosome X was found in 14 patients; the pathogenic autosomal recessive mutations in the COL4A3 gene were found in 9 patients. Quantitative evaluation demonstrated a significant difference between AS and healthy subjects on LAC of the superficial capillary plexus and deep capillary plexus (DCP) (p < 0.001 and p < 0.001, respectively) and on FD in the DCP (p < 0.001)., Conclusion: The DCP Alport patients have a higher vessel nonuniformity than DCP of healthy subjects. We hypothesize that endothelial cell lesion in the setting of low resistance at the DCP circuit could lead to long-term structural disorganization., (© 2021 S. Karger AG, Basel.)
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- 2022
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89. Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant.
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Esteves-Leandro J, Torres-Costa S, Estrela-Silva S, Santos-Silva R, Brandão E, Grangeia A, Fernandes S, Oliveira R, Falcão-Reis F, and Rocha-Sousa A
- Subjects
- Electroretinography, Humans, Portugal, Retrospective Studies, Tomography, Optical Coherence, Cone Dystrophy, Potassium Channels, Voltage-Gated genetics, Retinitis Pigmentosa
- Abstract
Purpose: To describe the clinical, electrophysiological, and genetic findings of three Portuguese families with a rare variant in the KCNV2 gene resulting in "cone dystrophy with supernormal rod responses" (CDSRR)., Methods: Retrospective clinical revision of five individuals from three unrelated families with CDSRR. Ophthalmological examination was described in all patients and included color vision testing, fundus photography, fundus autofluorescence (FAF) imaging, spectral domain-optical coherence tomography (SD-OCT), pattern electroretinogram (ERG), and full-field ERG. The mutational screening of the KCNV2 gene was performed with Sanger and Next Generation Sequencing., Results: All patients showed childhood-onset photophobia and progressive visual acuity loss with varying degrees of severity. In multimodal imaging, various degrees of retinal pigment epithelium disturbances and outer retinal atrophy, which tend to be worst with advancing age, were observed. Molecular screening identified a rare presumed truncating variant (p.Glu209Ter) in homozygosity in two families and in compound heterozygosity in a third family. Three patients showed ERG changes characteristic of CDSRR, however, two patients presented with incomplete electrophysiological features of the disease., Conclusion: A rare variant in the KCNV2 gene was identified in five patients from three Portuguese families. This variant often leads to a severe and progressive form of retinopathy. Considerable variability in the ERG responses among patients with this KCNV2 variant was observed.
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- 2022
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90. Prevalence and Area of Retinal Pigment Epithelium and Outer Retinal Atrophy in Eyes with Non-Exudative Macular Neovascularization.
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Vilares-Morgado R, Silva I, Cunha AM, Carneiro Â, Falcão-Reis F, and Falcão M
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- Humans, Prevalence, Cross-Sectional Studies, Fluorescein Angiography methods, Tomography, Optical Coherence methods, Atrophy diagnosis, Retinal Pigment Epithelium pathology, Geographic Atrophy diagnosis, Geographic Atrophy epidemiology
- Abstract
Purpose: The objective of this study wasto assess the prevalence of complete retinal pigment epithelium (RPE) and outer retinal atrophy (cRORA) in patients with unilateral exudative age-related macular degeneration (AMD) of the fellow eye and establish if the presence of non-exudative macular neovascularization (NE-MNV) influences the prevalence of RPE and outer retinal atrophy in eyes with AMD., Methods: This is an observational cross-sectional study of 68 patients with unilateral exudative AMD. Demographic and clinical data were collected, and multimodal retinal imaging was performed in all patients. Two groups of patients were defined according to the presence (NE-MNV) or absence (no NE-MNV) of NE-MNV in the study eye. We compared the prevalence of tomographic cRORA and fundus autofluorescence (FAF) geographic atrophy (GA) and differences in cRORA greatest linear diameter (GLD) and GA area between groups., Results: Globally, cRORA was present in 11 eyes (16.2%), FAF GA was present in 10 eyes (14.7%), and NE-MNV was present in 10 eyes (14.7%) of patients with unilateral exudative AMD of the fellow eye. The overall cRORA GLD was 1,950.64 ± 1,428.31 μm, and the mean area of GA was 9.25 ± 7.50 mm2. Regarding comparisons between groups, cRORA was present in 9 eyes (15.5%) without NE-MNV and in 2 eyes (20%) with NE-MNV (p = 0.66). Tomographic signs of atrophy were more frequent in eyes with NE-MNV (50% vs. 24.1% in eyes without NE-MNV; p = 0.008). No significant differences were found in cRORA GLD (p = 0.30) between groups. Eyes with NE-MNV and eyes without NE-MNV had a similar prevalence of FAF GA (2 eyes out of 10 and 8 eyes out of 58, respectively; p = 0.64). Eyes with NE-MNV had a smaller mean area of GA (2.07 ± 0.24 mm2 vs. 11.05 ± 7.34 mm2; p = 0.01)., Conclusion: In our study, the presence of NE-MNV was not associated with the prevalence of cRORA and/or FAF GA. Nonetheless, eyes with NE-MNV presented smaller areas of GA, which suggests that this type of neovascularization may prevent the progression of RPE and outer retinal atrophy. Longitudinal studies are required to confirm these preliminary results., (© 2022 S. Karger AG, Basel.)
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- 2022
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91. Scleral Fixation of Akreos AO60 Intraocular Lens Using Gore-Tex Suture: An Eye on Visual Outcomes and Postoperative Complications.
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Leuzinger-Dias M, Lima-Fontes M, Rodrigues R, Oliveira-Ferreira C, Madeira C, Falcão-Reis F, Fernandes V, Rocha-Sousa A, and Falcão M
- Abstract
Purpose: "In-the-bag" placement of an IOL is the Holy Grail for any cataract surgeon. However, in the absence of capsular integrity, alternative surgical options to place the IOL must be sought. We aim to report the clinical outcomes and safety profile of scleral-fixated Akreos AO60 intraocular lens implantation using Gore-Tex suture, combined with pars plana vitrectomy., Methods: This is a single-center, retrospective case series descriptive study. Electronic clinical records of all patients subjected to scleral fixation of a Bausch and Lomb Akreos AO60 IOL combined with pars plana vitrectomy, between April 1, 2017, and August 1, 2021, were reviewed. Data concerning age, sex, laterality, past ophthalmological history, pre- and postoperative best-available visual acuity, surgical indication, and intra- and postoperative complications were collected. Measured outcomes were the differences in best-available visual acuity and frequency of postoperative complications., Results: A total of 37 eyes (20 right eyes and 17 left eyes) from 36 patients (16 females and 20 males) were included in the statistical analysis. The mean age at time of surgery was 72.0 ± 12.4 years. The mean follow-up period was 548.9 days (range 39-1564 days). Globally, the mean best-available logMAR visual acuity improved from 1.61 preoperatively (0.025 decimal equivalent) to 0.57 postoperatively (0.3 decimal equivalent), this difference being statistically significant ( P < 0.001). Indications for surgery included aphakia due to complicated cataract surgery (24.3%; n = 9); subluxated IOL due to closed trauma (21.6%; n = 8); PEX-related subluxated IOL (16.2%; n = 6); non-traumatic, non-PEX-related subluxated IOL (18.9%; n = 7); subluxated crystalline lens due to closed trauma (8.1%; n = 3); aphakia due to open-globe injury (5.4%; n = 2); silicone-induced IOL opacification (2.7%; n = 1); and aphakia post-endophthalmitis (2.7%; n = 1). Postoperative complications included transient ocular hypertension (27.0%; n = 10), transient corneal edema (18.9%; n = 7), cystoid macular edema (18.9%, n = 7), self-limited hypotension (5.4%, n = 2), self-limited vitreous hemorrhage (2.7%, n = 1), central retinal vein occlusion (2.7%, n = 1), late retinal detachment (2.7%, n = 1), and Akreos IOL opacification (2.7%, n = 1). No suture-related complications were observed., Conclusion: There was a statistically significant improvement in visual acuity after scleral fixation of Akreos AO60 intraocular lens using Gore-Tex suture, with no suture-related problems recorded. This procedure seems to be a valuable alternative for posterior chamber IOL placement when secondary IOL implantation is required., Competing Interests: The authors declare that they have no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (Copyright © 2021 Mariana Leuzinger-Dias et al.)
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- 2021
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92. Covid-19 Impact on Macular Neovascularization and Retinal Vein Occlusion Treatment: Single-Center Experience.
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Vilares-Morgado R, Madeira C, Cunha AM, Falcão M, Beato J, Pedrosa AC, Penas S, Brandão E, Falcão-Reis F, and Carneiro Â
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Purpose: The aim of this study was to evaluate whether the coronavirus disease 19 (COVID-19) pandemic resulted in undertreatment and subsequent loss of visual acuity (VA) in patients with macular neovascularization (MNV) or retinal vein occlusion (RVO) regularly treated with intravitreal antivascular endothelial growth factor injections., Methods: Single-center, retrospective study of patients scheduled for treatment between March 19 and June 1, 2020, the national mandatory quarantine period. Patients' demographics, VA, and scheduled treatment during this period were reviewed via medical records. All patients were analyzed regarding treatment attendance rates. The visual impact of COVID-19 was assessed in patients who had been treated and presented a stable VA for >6 months before the beginning of the quarantine., Results: This study included 927 eyes from 769 patients. The attendance rate increased throughout the study timeframe ( p < 0.001) and correlated negatively with higher patient's age ( r = -0.142; p = 0.005). Patients with age-related macular degeneration (67.6%) had lower attendance rates ( p = 0.007) and were older ( p < 0.001). The visual impact analysis included 400 eyes from 325 patients. The average VA variation throughout this period was -1.7 ± 8.4 ETDRS letters and was similar in different retinal pathologies ( p = 0.334). VA variation did not correlate with the number of missed treatments per patient ( r = 0.100; p = 0.150). The prevalence of subretinal fluid and intraretinal fluid, as well as central retinal thickness decreased significantly throughout the study period ( p values of <0.001, <0.001, and 0.032, respectively)., Conclusion: The COVID-19 pandemic had a significant impact on the attendance rate of patients with MNV or RVO to their scheduled treatments, which was higher in the first week of mandatory quarantine. Nevertheless, VA did not decrease significantly during this period, with a limited VA variation regardless of primary retinal disorder and morphological parameters even improved in the eyes included in the visual impact analysis., Competing Interests: The authors have no conflicts of interest to declare., (Copyright © 2021 by The Author(s) Published by S. Karger AG, Basel.)
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- 2021
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93. Long-term progression of geographic atrophy in age-related macular degeneration does the phakic status matter?
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Madeira C, Godinho G, Vilares-Morgado R, Beato J, Pinheiro-Costa J, Carneiro Â, Falcão-Reis F, and Falcão M
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- Disease Progression, Fluorescein Angiography, Humans, Pseudophakia, Quality of Life, Visual Acuity, Geographic Atrophy diagnosis, Geographic Atrophy etiology, Macular Degeneration
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Purpose: To assess the long-term risk of geographic atrophy (GA) progression after cataract surgery., Methods: Subjects with GA secondary to AMD followed for at least 1 year with fundus autofluorescence imaging and with at least two visits at our centre were included. Patients with wet AMD, disciform scar, past history of intravitreal injections or laser treatment, other maculopathies and with poor quality images were excluded. GA area at baseline and at follow-up visit was measured. Three study groups were defined according to their phakic status: (A) pseudophakia, (B) phakic and (C) phacoemulsification surgery performed during the study. Differences of GA area progression were compared between these study groups. In addition, comparison between GA progression rate in group (C) before and after the surgery was performed. The enlargement rate (ER) was calculated for lesion size after transforming the measurements to the square-root scale., Results: A total of 92 eyes of 92 patients were enrolled. Median follow-up time was 4 [1-10] years. Regarding the eye's phakic status, 29 (31.5%) were pseudophakic and 63 (68.5%) were phakic; of these, 22 underwent phacoemulsification during the study. Overall, the median baseline and follow-up area of GA were 1.42 [0.04-32.10] mm
2 and 6.48 [0.25-47.40] mm2 , respectively. The ER was similar between phakic and pseudophakic eyes (0.18 [0.01-1.03] vs 0.15 [0.01-0.65] mm/year, p = 0.62). In patients that underwent cataract surgery during the study, the GA ER remained stable (0.13 [0.01-0.92] vs 0.14 [0.01-0.63] mm/year, p = 0.43)., Conclusion: These results suggest that cataract surgery does not increase the risk of pre-existing GA progression. Therefore, cataract surgery seems safe and a potential therapeutic weapon to improve visual acuity and consequently quality of life in GA patients., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)- Published
- 2021
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94. Traumatic Cyclodialysis Cleft Treatment Combined with Cataract Surgery: An Original Triple Procedure.
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Leuzinger-Dias M, Lima-Fontes M, Oliveira-Ferreira C, Macedo JP, Falcão-Reis F, Freitas-da-Costa P, and Benevides-Melo A
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Introduction: To describe a "triple" surgical procedure, which combined traumatic cataract extraction by phacoemulsification with gas endotamponade and cyclocryotherapy in the successful treatment of a traumatic cyclodialysis cleft., Methods: A 44-year-old man who suffered severe left eye blunt trauma with an elastic band developed a 4-hour extent cyclodialysis cleft with consequent hypotony. After 7 weeks of persistent hypotonic maculopathy unresponsive to medical treatment, and with an evolving traumatic cataract, the patient underwent cataract surgery combined with intravitreal gas endotamponade (20% SF6) and cyclocryotherapy., Results: Two weeks after the procedure the intraocular pressure increased to 12 mmHg and remained steady during the next 14 months of follow-up. Hypotonic maculopathy resolved and successful closure of the cyclodialysis cleft was confirmed by gonioscopy and ultrasound biomicroscopy., Conclusion: Gas endotamponade and cyclocryotherapy constitute a promising option in the treatment of cyclodialysis clefts unresponsive to medical therapy. In our case, this minimally invasive technique was innovatively combined with cataract surgery. Despite early postoperative intraocular inflammation, a successful outcome was achieved., (© 2021. The Author(s).)
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- 2021
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95. A painful red eye in an intravenous drug abuser: When not everything is what it seems.
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Leuzinger-Dias M, Godinho G, Lima-Fontes M, Oliveira-Ferreira C, Camisa E, Falcão-Reis F, Silva M, and Figueira L
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Introduction: Endogenous endophthalmitis is a rare but devastating ocular infection, resulting from microbial seeding of the eye during bacteremia or fungemia. Among other sources of septicemia, intravenous drug abuse is a significant risk factor, and endogenous endophthalmitis should always be thought of in any patient with a history of injectable drug use, presenting with a painful vision loss and a red inflamed eye., Case Description: We report the case of a 47-year-old male, with a history of injectable drug consumption, who presented to our emergency department complaining of a painful red eye and recent deterioration of visual acuity. After the first clinical hypothesis of endogenous endophthalmitis being considered, the final diagnosis of Human Leukocyte Antigen (HLA) B27-associated acute anterior uveitis was established., Conclusion: Ocular inflammation is one of the most challenging fields in all ophthalmology. Several inflammatory disorders, ranging from a wide variety of infectious and non-infectious conditions, can present themselves with the same clinical signs and symptoms, making their diagnosis extremely defiant.
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- 2021
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96. Keratoconus enlargement as a predictor of keratoconus progression.
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Cunha AM, Correia PJ, Alves H, Torrão L, Moreira R, Falcão-Reis F, and Pinheiro-Costa J
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- Adolescent, Adult, Female, Follow-Up Studies, Humans, Keratoconus diagnostic imaging, Keratoconus physiopathology, Longitudinal Studies, Male, Astigmatism diagnostic imaging, Astigmatism physiopathology, Cornea diagnostic imaging, Cornea physiopathology, Corneal Topography, Disease Progression, Visual Acuity
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Numerous approaches have been designated to document progression in keratoconus, nevertheless there is no consistent or clear definition of ectasia progression. In this present study, we aim to evaluate Keratoconus Enlargement (KCE) as a parameter to document ectasia progression. We define KCE as an increase of more than 1D in the anterior curvature of non-apical corneal areas. We have designed a longitudinal study in 113 keratoconic eyes to assess keratoconus progression. KCE was compared with variables commonly used for detection of keratoconus progression like Kmax, Km, K2, PachyMin, D-Index, Corneal Astigmatism and PRC of 3.0 mm centered on the thinnest point. The variations of keratometric readings, D-index and ELEBmax showed positive associations with KCE. Evaluating the performance of Kmax, D-index and KCE as isolated parameters to document keratoconus progression we found a sensitivity of 49%, 82% and 77% and a specificity of 100%, 95% and 66% to detect keratoconus progression (p < 0.001 for all). This difference in sensitivity can be explained by the changes in keratoconus outside the small area represented by Kmax. The inclusion of KCE should be considered in the evaluation of keratoconus progression in conjunction with other variables to increase the reliability of our clinical evaluation., (© 2021. The Author(s).)
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- 2021
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97. Increased Choroidal Thickness in Morquio Syndrome.
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Magalhães A, Vilares-Morgado R, Cunha AM, Leão-Teles E, Falcão M, Carneiro Â, and Falcão-Reis F
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The purpose of this clinical case report is to describe a case of mucopolysaccharidosis type IVA (MPS IVA), or Morquio syndrome, with increased choroidal thickness in enhanced-depth imaging optical coherence tomography (EDI-OCT) which can represent choroidal deposition of glycosaminoglycans (GAGs). A 21-year-old male with genetically confirmed diagnosis of MPS IVA was examined at our Pediatric Ophthalmology clinic as part of our follow-up protocol for MPS patients. His best-corrected visual acuity was 4/10 in his right eye (OD) and 6/10 in the left eye (OS). Mild diffuse corneal opacification was evident. Intraocular pressure was within normal range. Fundus examination and color fundus photography revealed no abnormalities. EDI-OCT revealed significantly increased choroidal thickness in his right eye and in his left eye, suggesting the presence of choroidal deposition of GAGs, despite absence of retinal or optic disc GAG deposition or other chorioretinal involvement. To our knowledge, this is the first case of MPS IVA described in the literature with suspected choroidal deposition of GAGs. With improved control of systemic features of MPS IVA, life expectancy of these patients has increased, allowing for more ocular manifestations to develop. The parallel development of technology in ophthalmology, such as the EDI-OCT, further contributes to the detection of these unprecedented ocular features in MPSs., Competing Interests: One author of this publication (Elisa Leão-Teles) is a member of the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN) − Project ID No. 739543., (Copyright © 2021 by S. Karger AG, Basel.)
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- 2021
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98. Endophthalmitis following Intravitreal Injection, Cataract Surgery, and Vitrectomy: Clinical Features and Visual Outcomes.
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Cunha AM, Iglésias MM, Rocha-Sousa A, Falcão-Reis F, and Falcão M
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Purpose: To describe and compare the clinical features and visual outcomes of endophthalmitis following intravitreal injections (IVI), cataract surgery, and pars plana vitrectomy (PPV)., Methods: This is a single-centre, retrospective study. All included patients had acute postoperative endophthalmitis secondary to one of these three procedures. Visual acuity (VA), comorbidities, time to presentation, and treatment were assessed. The primary outcome was visual outcome. A poor outcome was considered if final VA was worse than or equal to counting fingers (CF) and a good outcome was classified as VA better than CF., Results: Over 12 years, a total of 61 patients were included. Twenty-seven cases were post-cataract endophthalmitis; twenty-five were post-IVI and nine post-PPV. Endophthalmitis post-PPV had a worse visual outcome (88.9% of patients with VA worse than or equal to CF 95% CI 51.3 to 100.0%) than endophthalmitis following cataract surgery (25.9% of patients with VA worse than or equal to CF 95% CI 11.0 to 39.9%) and the IVI subgroup (44.0% of VA worse than or equal to CF 95% CI 24.0 to 67.0%) ( p =0.001 and p =0.047). There were no significant differences in the proportion of patients with a poor visual outcome between endophthalmitis following cataract surgery and IVI ( p =0.171)., Conclusions: The number of patients with poor visual outcomes following acute endophthalmitis was similar in endophthalmitis following IVI and cataract surgery, but better than endophthalmitis following vitrectomy., Competing Interests: The authors declare that there are no conflicts of interest regarding the publication of this study., (Copyright © 2021 Ana Maria Cunha et al.)
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- 2021
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99. Two Novel Disease-Causing Variants in the PDE6C Gene Underlying Achromatopsia.
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Madeira C, Godinho G, Grangeia A, Falcão M, Silva R, Carneiro Â, Brandão E, Magalhães A, Falcão-Reis F, and Estrela-Silva S
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We report the clinical phenotype and genetic findings of two variants in PDE6C underlying achromatopsia (ACHM). Four patients with the variant c.1670G>A in exon 13 of the PDE6C gene were identified. Additionally, one had compound heterozygous genotype, with two variants in the PDE6C gene, a variant of c.2192G>A in exon 18 and c.1670G>A in exon 13. All patients presented the symptomatic triad of decreased visual acuity, severe photophobia, and colour vision disturbances. SD-OCT showed an absence of the ellipsoid zone, creating an optically empty cavity at the fovea in three patients. The patient with the compound heterozygous genotype presented a more severe subfoveal outer retina atrophy. ERG recordings showed extinguished responses under photopic and 30-Hz flicker stimulation, with a normal rod response. We identified two new variants in the PDE6C gene that leads to ACHM., Competing Interests: The authors have no disclosures or other conflicts of interest to report., (Copyright © 2021 by S. Karger AG, Basel.)
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- 2021
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100. Prone Positioning Covid-19 Patients: A Double-Edged Sword-A Case Report of a Devastating Ocular Complication.
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Leuzinger-Dias M, Lima-Fontes M, Oliveira-Ferreira C, Camisa E, Sousa C, Rocha-Sousa A, Falcão-Reis F, and Freitas-da-Costa P
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In the late 1970s, prone positioning was established as an efficient treatment for acute respiratory distress syndrome (ARDS). Currently, with the world facing a global health crisis due to the COVID-19 pandemic, it has become an accepted routine practice in intensive care units dealing with critically ill COVID-19 patients. Ophthalmic complications associated with the prone position are not a novelty in clinical practice. Indeed, it is estimated that in patients undergoing spine surgery, prone positioning carries a tenfold increased risk of eye injury when compared to supine and lateral positioning. The majority of these complications are treatable ocular surface disorders, but irreversible sight-threatening conditions also occur. We report a unique and dramatic case of a ruptured globe in a COVID-19 patient placed in prolonged prone position, emphasizing its difficult diagnosis and management while focusing on life-saving support., (© 2021. The Author(s).)
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- 2021
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