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 SouzaPublished 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.