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

Lorrana Souza AzevedoMárcio Augusto Moraes AlvarezGabriel Izan Santos BotelhoAlexandre Antônio Marques RosaGivago da Silva Souza

Published in: Documenta ophthalmologica. Advances in ophthalmology (2024)

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.

Keyphrases

diabetic retinopathy
genome wide
copy number
optic nerve
optical coherence tomography
genome wide identification
low grade
transcription factor
social media
high grade