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03-01-2024 | Clinical Case Report

Genetic, morphological and electrophysiological findings in a patient with a rare pathogenic variant in the RS1 gene

Authors: Lorrana Souza Azevedo, Márcio Augusto Moraes Alvarez, Gabriel Izan Santos Botelho, Alexandre Antônio Marques Rosa, Givago Silva Souza

Published in: Documenta Ophthalmologica | Issue 1/2024

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Abstract

Purpose

In this study, we report a case of a young adult with X-linked juvenile retinoschisis (XLRS) with a rare pathogenic variant in the RS1 gene (c.522 + 2 T > A).

Methods

Ophthalmological evaluation, optical coherence tomography, full-field and multifocal electroretinograms and extensive genetic screening of genes related to visual loss were carried out in the participant.

Results

Clinical ophthalmological exams revealed a mild to moderate impairment of visual acuity. Retinal imaging showed bilateral foveal schisis, as well as normal a-wave, reduction in the b-wave amplitudes in dark- and light- adapted full-field electroretinograms, and abnormal oscillatory potentials. We found also diffuse amplitude reduction in multifocal electroretinogram arrays. A canonical splice variant was identified in the RS1 gene (c.522 + 2 T > A).

Conclusion

A rare pathogenic variant of the RS1 gene was associated with diffuse retinal involvement (central and peripheral retina), probably in inner retina, and mild to moderate visual acuity impairment. The phenotypical characterization of rare mutations is relevant to provide information about the disease.
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Metadata
Title
Genetic, morphological and electrophysiological findings in a patient with a rare pathogenic variant in the RS1 gene
Authors
Lorrana Souza Azevedo
Márcio Augusto Moraes Alvarez
Gabriel Izan Santos Botelho
Alexandre Antônio Marques Rosa
Givago Silva Souza
Publication date
03-01-2024
Publisher
Springer Berlin Heidelberg
Published in
Documenta Ophthalmologica / Issue 1/2024
Print ISSN: 0012-4486
Electronic ISSN: 1573-2622
DOI
https://doi.org/10.1007/s10633-023-09959-2