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. 2024 Feb 12;24(1):60.
doi: 10.1186/s12886-023-03276-7.

Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico

Rocio A Villafuerte-de la Cruz  1   2 , Lucas A Garza-Garza  2 , Manuel Garza-Leon  2   3 , Cesar Rodriguez-De la Torre  1 , Cinthya Parra-Bernal  1 , Ilse Vazquez-Camas  4   5 , David Ramos-Gonzalez  1 , Andrea Rangel-Padilla  1 , Angelina Espino Barros-Palau  1 , Jose Nava-García  1 , Javier Castillo-Velazquez  6 , Erick Castillo-De Leon  6 , Agustin Del Valle-Penella  7 , Jorge E Valdez-Garcia  1 , Augusto Rojas-Martinez  8   9
Affiliations

Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico

Rocio A Villafuerte-de la Cruz et al. BMC Ophthalmol. .

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.

Keywords: Inherited retinopathy; Mexico; Pathogenic variant; Retinal dystrophies.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Numbers of cases (in parenthesis) with diagnosed causative genes encountered in the present study
See this image and copyright information in PMC

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