Evidence map›Paper›PMID 38172268›Full record

ArticleDocumenta ophthalmologica. Advances in ophthalmology2024

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

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

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In one paragraph

Article in Documenta ophthalmologica. Advances in ophthalmology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Lorrana Souza AzevedoInstituto de Ciências da Saúde, Faculdade de Medicina, Universidade Federal do Pará, Belém, Brazil.
Márcio Augusto Moraes AlvarezFaculdade de Medicina, Centro Universitário do Estado do Pará, Belém, Brazil.
Gabriel Izan Santos BotelhoClínica Oftalmológica RetinaPro, Belém, Brazil.
Alexandre Antônio Marques RosaInstituto de Ciências da Saúde, Faculdade de Medicina, Universidade Federal do Pará, Belém, Brazil.
Givago Silva SouzaInstituto de Ciências Biológicas, Universidade Federal do Pará, Belém, Brazil. givagosouza@ufpa.br.ORCID 0000-0002-4525-3971

Funding

Conselho Nacional de Desenvolvimento Científico e Tecnológico #309936/2022-5
6 · The paper itself

Abstract

purposeIn 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).

methodsOphthalmological 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.

resultsClinical 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).

conclusionA 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.

Indexed as

ElectroretinographyRetinoschisisEye ProteinsFovea CentralisHumansMutationRetinaTomography, Optical CoherenceYoung AdultEye ProteinsRS1 protein, humanGenetic mutationNeuroOphthalmologyOptical coherence tomographyRetinal electrophysiologyRetinoschisis

Identifiers

PMID38172268

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