Beijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology & Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capital Medical University, China. 1 Dong Jiao Min Xiang, Dong Cheng District, Beijing, 100730, China.
Ningxia Eye Hospital, People's Hospital of Ningxia Hui Autonomous Region, Third Clinical Medical College of Ningxia Medical University, Huanghe Road, Jinfeng District, the Ningxia Hui Autonomous Region, Yinchuan, 750002, China.
BMC Med Genomics. 2023 Aug 4;16(1):182. doi: 10.1186/s12920-023-01620-w.
The genotype characteristics and their associated clinical phenotypes in patients with aniridia were analyzed to explore pathogenic variants using whole-exome sequencing.
One patient with aniridia was enrolled at the Beijing Tongren Hospital. Comprehensive ophthalmic and general examinations were performed on the patient. DNA was extracted from the patient, and whole-exome sequencing was performed to identify the causative variant. The pathogenicity of the variant was predicted using in silico analysis and evaluated according to American College of Medical Genetics and Genomics guidelines. Relationships between genetic variants and clinical features were analyzed.
In addition to the classical aniridia phenotype showing complete iris aplasia, foveal hypoplasia, and ectopic lentis, the patient also exhibited spontaneous reattachment rhegmatogenous retinal detachment (SRRRD). Whole-exome sequencing identified a novel heterozygous variant, exon8:c.640_646del:p.R214Pfs*28.
The present study broadens the range of genetic variants described in aniridia and presents an aniridia patient with SRRRD.
本研究通过全外显子测序分析无虹膜症患者的基因型特征及其相关临床表型，以探讨致病变异。
在北京同仁医院招募了 1 名无虹膜症患者。对患者进行全面的眼科和一般检查。从患者中提取 DNA，并进行全外显子测序以识别致病变异。通过计算机分析预测变异的致病性，并根据美国医学遗传学与基因组学学院指南进行评估。分析遗传变异与临床特征之间的关系。
除了表现为完全性虹膜缺如、黄斑发育不良和异位晶状体的经典无虹膜表型外，该患者还出现了自发复位孔源性视网膜脱离（SRRRD）。全外显子测序鉴定出一个新的杂合变异，exon8：c.640_646del：p.R214Pfs*28。
本研究拓宽了无虹膜症相关基因突变的范围，并报道了一例伴有 SRRRD 的无虹膜症患者。
