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Título

FOUR BRAZILIAN PATIENTS WITH OGUCHI DISEASE: FIRST BRAZILIAN CASES REPORTED

Resumo

INTRODUCTION: Oguchi disease is a distinctive form of autosomal recessive Congenital Stationary Night Blindness (CSNB) more common in the Japanese population¹, presenting with a peculiar fundus abnormality²,³, The disease is very rare and around 50 cases have been reported up till now⁴. PURPOSE: The purpose of this study was to present the clinical and molecular aspects of four cases and three families, the first Brazilian cases reported in the literature. METHODS: Retrospective review of the medical records of consented patients. All studies were performed for clinical and not research indications. Examination included central fundus photography, fundus autofluorescence (FAF), spectral-density optical coherence tomography (OCT), full-field electroretinography (ERG) in accordance with the International Society for Clinical Electrophysiology of Vision Standards. Two patients were tested with an IRD NGS testing of 235 genes. RESULTS: Three females (32, 44 and 47 years) and one male (17 years) from three families complained long life history of visual difficulties in dark environments. The ophthalmic examination revealed good visual acuity (ranging from 20/20 to 20/32) and a golden-yellow fundus discoloration that highlighted with the ophthalmoscope light. The full-field ERG showed the scotopic b-wave severely affected and a negative waveform in the dark-adapted bright-flash ERG in all patients. OCT and multimodal images were registered and will be presented. With the clinical hypotheses of Oguchi disease, genetic test has been performed in two families. The variant SAG:c.571C>T (p.Gln191Ter) was found homozygously in one patient and a novel unreported variant SAG:c .182-2A>G was found in a homozygous state in one patient. CONCLUSION: To our knowledge, this is the first report to describe Oguchi disease in Brazilian population, related to SAG gene. The findings here reported are important to contribute to the scarce literature regarding this rare disease.

Referências Bibliográficas

1. Tsang SH, Sharma T. Congenital Stationary Night Blindness. Em: Tsang SH, Sharma T, organizadores. Atlas of Inherited Retinal Diseases [Internet]. Cham: Springer International Publishing; 2018 [citado 19 de maio de 2023]. p. 61–4. (Advances in Experimental Medicine and Biology; vol. 1085). Disponível em: http://link.springer.com/10.1007/978-3-319-95046-4_13
2. Godara P, Cooper RF, Sergouniotis PI, Diederichs MA, Streb MR, Genead MA, et al. Assessing Retinal Structure in Complete Congenital Stationary Night Blindness and Oguchi Disease. Am J Ophthalmol. dezembro de 2012;154(6):987-1001.e1.
3. Zeitz C, Robson AG, Audo I. Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms. Prog Retin Eye Res. março de 2015;45:58–110.
4. Mirshahi A, Hassanpoor N, Khojasteh H, Reza Baradaran M, Faghihi H, Lashay A. Oguchi Disease Associated with Keratoconus. J Ophthalmic Vis Res [Internet]. 20 de janeiro de 2021 [citado 19 de maio de 2023]; Disponível em: https://knepublishing.com/index.php/JOVR/article/view/8262

Área

RETINA (Trabalhos)