黎巴嫩的相关视网膜病变

-related retinopathies in Lebanon.

作者信息

Ibrahim Mariam, Jaffal Lama, Assi Alexandre, Helou Charles, El Shamieh Said

机构信息

Molecular Testing Laboratory, Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon.

Rammal Hassan Rammal Research Laboratory, PhyToxE Research Group, Faculty of Sciences, Lebanese University, Nabatieh, Lebanon.

出版信息

Heliyon. 2024 Apr 26;10(9):e30304. doi: 10.1016/j.heliyon.2024.e30304. eCollection 2024 May 15.

DOI:10.1016/j.heliyon.2024.e30304

PMID:38694055

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11061736/

Abstract

Variants in () have been linked to several forms of inherited retinal diseases (IRDs) besides the classically defined Stargardt disease (STGD), known collectively as retinopathies. is a sizable locus harboring 50 exons; thus, its analysis has revealed over 2,400 variants described, of which more than 2,000 are causal. Due to the clinical and genetic heterogeneity, diagnosing retinopathies is challenging. To date, no -related retinopathy has been detected in Lebanon. Using next-generation sequencing, we analyzed our IRDs' cohort retrospectively (61 families) and identified five with -related retinopathies, making it a relatively abundant cause of IRDs (about 8 %). Three families were diagnosed with rod-cone dystrophy (RCD), two with STGD, and one with cone-rod dystrophy (CRD). In conclusion, our study showed the presence of variants with a high degree of heterogeneity in Lebanon.

摘要

除了经典定义的斯塔加特病（STGD）外，（）基因的变异还与几种遗传性视网膜疾病（IRD）相关，统称为视网膜病变。是一个包含50个外显子的较大基因座；因此，对其分析已发现超过2400种已描述的变异，其中2000多种是致病性的。由于临床和遗传异质性，诊断视网膜病变具有挑战性。迄今为止，黎巴嫩尚未检测到与相关的视网膜病变。我们使用下一代测序技术对我们的IRD队列（61个家庭）进行了回顾性分析，确定了5个与相关的视网膜病变病例，使其成为IRD相对常见的病因（约8%）。三个家庭被诊断为视杆-视锥营养不良（RCD），两个家庭被诊断为STGD，一个家庭被诊断为视锥-视杆营养不良（CRD）。总之，我们的研究表明黎巴嫩存在具有高度异质性的变异。