Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.
Great Ormond Street Hospital for Children, London WC1N 3JH, UK.
Genes (Basel). 2021 Jan 21;12(2):131. doi: 10.3390/genes12020131.
Childhood cataract affects 2.5-3.5 per 10,000 children in the UK, with a genetic mutation identified in 50-90% of bilateral cases. However, cataracts can also manifest in adolescence and early adulthood in isolation, as part of a complex ocular phenotype or with systemic features making accurate diagnosis more challenging. We investigate our real-world experience through a retrospective review of consecutive bilateral cataract patients (0-25 years) presenting to the ocular genetics service at Moorfields Eye Hospital between 2017 and 2020. Fifty-four patients from 44 unrelated families were identified, with a median age of 13.5 years (range 1 to 68 years) and a median age at diagnosis of 43.9 months IQR (1.7-140.3 months); 40.7% were female and 46.3% were Caucasian. Overall, 37 patients from 27 families (61.4%) were genetically solved (50%) or likely solved (additional 11.4%), with 26 disease-causing variants (8 were novel) in 21 genes; the most common were crystallin genes, in 8 (29.6%) families, with half occurring in the gene. There was no significant difference in the molecular diagnostic rates between sporadic and familial inheritance ( = 0.287). Associated clinical diagnoses were retinal dystrophies in five (18.5%) and aniridia in three (11.1%) families. Bilateral cataracts were the presenting feature in 27.3% (6/22) of either complex or syndromic cases, and isolated cataract patients were 11.5 years younger (rank-sum Z = 3.668, = 0.0002). Prompt genetic investigation with comprehensive panel testing can aid with diagnosis and optimise management of cataract patients.
英国每 10000 名儿童中就有 2.5-3.5 名患有儿童白内障，50-90%的双侧病例中都发现了基因突变。然而，白内障也可能在青少年和成年早期孤立出现，作为复杂眼部表型的一部分，或伴有全身特征，使准确诊断更加困难。我们通过对 2017 年至 2020 年间在 Moorfields 眼科医院眼遗传学服务处就诊的连续双侧白内障患者（0-25 岁）进行回顾性研究，调查了我们的实际经验。从 44 个无关家庭中确定了 54 名患者，中位年龄为 13.5 岁（范围 1-68 岁），诊断中位年龄为 43.9 个月 IQR（1.7-140.3 个月）；40.7%为女性，46.3%为白种人。总体而言，27 个家庭中有 37 名患者（61.4%）的基因得到了解决（50%）或可能得到了解决（另外 11.4%），21 个基因中有 26 个致病变异（8 个为新变异）；最常见的是晶体蛋白基因，在 8 个（29.6%）家庭中，其中一半发生在 基因中。散发性和家族性遗传之间的分子诊断率没有显著差异（ = 0.287）。相关的临床诊断为 5 个（18.5%）家庭中的视网膜营养不良和 3 个（11.1%）家庭中的无虹膜。27.3%（6/22）的复杂或综合征病例以双侧白内障为首发症状，孤立性白内障患者年轻 11.5 岁（秩和 Z = 3.668， = 0.0002）。及时进行基因检测，全面进行基因panel 检测，有助于诊断和优化白内障患者的管理。
