Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.

ABSTRACT:

Background

Inherited retinal dystrophies are hereditary diseases which have in common the progressive degeneration of photoreceptors. They are a group of diseases with clinical, genetic, and allelic heterogeneity. There is limited information regarding the genetic landscape of inherited retinal diseases in Mexico, therefore, the present study was conducted in the northeast region of the country.

Methods

Patients with inherited retinal dystrophies were included. A complete history, full ophthalmological and medical genetics evaluations, and genetic analysis through a targeted NGS panel for inherited retinal dystrophies comprising at least 293 genes were undertaken.

Results

A total of 126 patients were included. Cases were solved in 74.6% of the study's population. Reti

SUBMITTER: Villafuerte-de la Cruz RA 

PROVIDER: S-EPMC10860328 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature