학술논문
Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico
Document Type
article
Author
Rocio A. Villafuerte-de la Cruz; Lucas A. Garza-Garza; Manuel Garza-Leon; Cesar Rodriguez-De la Torre; Cinthya Parra-Bernal; Ilse Vazquez-Camas; David Ramos-Gonzalez; Andrea Rangel-Padilla; Angelina Espino Barros-Palau; Jose Nava-García; Javier Castillo-Velazquez; Erick Castillo-De Leon; Agustin Del Valle-Penella; Jorge E. Valdez-Garcia; Augusto Rojas-Martinez
Source
BMC Ophthalmology, Vol 24, Iss 1, Pp 1-14 (2024)
Subject
Language
English
ISSN
1471-2415
Abstract
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. Retinitis pigmentosa accounted for the most found inherited retinal disease. Ninety-nine causal variants were found, being USH2A and ABCA4 the most affected genes (26 and 15 cases, respectively). Conclusions The present study documents the most prevalent causative genes in IRDs, as USH2A, in northeastern Mexico. This contrasts with previous reports of IRDs in other zones of the country. Further studies, targeting previously unstudied populations in Mexico are important to document the genetic background of inherited retinal dystrophies in the country.