Li Wan, Chen Fei
Department of Ophthalmology, Union Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology Wuhan 430022, Hubei, China.
Am J Transl Res. 2025 Aug 15;17(8):6257-6261. doi: 10.62347/ENMU6061. eCollection 2025.
Congenital cataracts are a major cause of visual impairment in infants and young children, with glaucoma being a frequent complication after cataract surgery. Here, we report a case of congenital cataracts accompanied by secondary glaucoma following surgery and we preliminarily investigate the genetic etiology. Comprehensive physical examination was performed, and genomic DNA extracted from the patient's was subjected to exome sequencing. A heterozygous variant of uncertain significance in the gene (c.409T>C: p.Trp137Arg), associated with autosomal dominant polymorphic cataract, was identified. Familial segregation analysis indicated maternal inheritance, with a 50% transmission risk to future offspring.
先天性白内障是婴幼儿视力障碍的主要原因，青光眼是白内障手术后常见的并发症。在此，我们报告一例先天性白内障术后并发继发性青光眼的病例，并初步探究其遗传病因。对患者进行了全面的体格检查，并提取其基因组DNA进行外显子组测序。在该基因中鉴定出一个意义未明的杂合变异（c.409T>C：p.Trp137Arg），其与常染色体显性多态性白内障相关。家系分离分析表明该变异为母系遗传，未来后代有50%的遗传风险。
