Tecnologico de Monterrey, Escuela de Medicina y Ciencias de La Salud, Ave. Morones Prieto 3000, Col. Los Doctores, Monterrey, CP 64710, Mexico.
Destellos de Luz, San Pedro Garza García, México.
BMC Ophthalmol. 2024 Feb 12;24(1):60. doi: 10.1186/s12886-023-03276-7.
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.
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.
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).
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.
遗传性视网膜病变是一组具有共同特征的遗传性疾病，即感光细胞进行性退化。这些疾病在临床表现、遗传学和等位基因上具有异质性。关于墨西哥遗传性视网膜疾病的遗传图谱信息有限，因此，本研究在该国东北部进行。
纳入遗传性视网膜病变患者。进行完整的病史、全面的眼科和医学遗传学评估，以及通过针对遗传性视网膜病变的靶向 NGS 面板进行基因分析，该面板至少包含 293 个基因。
共纳入 126 例患者。在该研究人群中，74.6%的病例得到解决。色素性视网膜炎是最常见的遗传性视网膜疾病。发现了 99 个致病变异，USH2A 和 ABCA4 是受影响最严重的基因（分别为 26 例和 15 例）。
本研究记录了墨西哥东北部最常见的致病变异基因，即 USH2A。这与该国其他地区之前报道的 IRD 情况形成对比。针对墨西哥以前未研究人群的进一步研究对于记录该国遗传性视网膜病变的遗传背景非常重要。
