TY - JOUR
T1 - Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico
AU - Villafuerte-de la Cruz, Rocio A.
AU - Garza-Garza, Lucas A.
AU - Garza-Leon, Manuel
AU - Rodriguez-De la Torre, Cesar
AU - Parra-Bernal, Cinthya
AU - Vazquez-Camas, Ilse
AU - Ramos-Gonzalez, David
AU - Rangel-Padilla, Andrea
AU - Espino Barros-Palau, Angelina
AU - Nava-García, Jose
AU - Castillo-Velazquez, Javier
AU - Castillo-De Leon, Erick
AU - Del Valle-Penella, Agustin
AU - Valdez-Garcia, Jorge E.
AU - Rojas-Martinez, Augusto
N1 - Publisher Copyright:
© The Author(s) 2024.
PY - 2024/12
Y1 - 2024/12
N2 - 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.
AB - 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.
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U2 - 10.1186/s12886-023-03276-7
DO - 10.1186/s12886-023-03276-7
M3 - Article
C2 - 38347443
SN - 1471-2415
VL - 24
SP - 60
JO - BMC Ophthalmology
JF - BMC Ophthalmology
IS - 1
M1 - 60
ER -