From the State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Guangzhou, Guangdong Province, China.
From the State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Guangzhou, Guangdong Province, China.
Am J Ophthalmol. 2024 Jul;263:206-213. doi: 10.1016/j.ajo.2023.10.022. Epub 2024 Jan 5.
To explore the factors related to the diagnosis yield of syndromic congenital cataracts and describe the phenotype-genotype correlation in congenital cataract patients.
Prospective cohort study.
Setting: the participants from underwent clinical examinations between 2021 and 2022. Facial and anterior eye segment photographs, pre- and postoperative ocular parameters, and medical and family histories were recorded. Bioinformatics analysis was performed using whole-exome sequencing data. Statistical and correlation analyses were performed using the basic characteristics, deep phenotype, and genotype data.
115 patients with unrelated congenital cataract.
performing clinical examinations, whole-exome sequencing, and bioinformatics analysis for all participants.
factors related to the genetic diagnosis yield of syndromic congenital cataracts.
Bilaterally asymmetrical cataracts were identified to be associated with syndromic congenital cataracts. The overall genetic diagnostic yield in the cohort was 72.2%. In total, 34.8% of the probands were early diagnosed with various syndromes with the help of genetic information. A phenotype-genotype correlation was detected for some genes and deep phenotypes.
We highlight the importance of screening syndromic diseases in the patients with asymmetrical congenital cataracts. Application of whole-exome sequencing helps provide early diagnosis and treatment for the patients with syndromic congenital cataracts. This study also achieved a high genetic diagnostic yield, expanded the genotypic spectrum, and found phenotype-genotype correlations. A comprehensive analysis of cataract symmetricity, family history, and deep phenotypes makes the genotype prediction of some congenital cataract patients possible.
探讨综合征型先天性白内障诊断率相关的因素，并描述先天性白内障患者的表型-基因型相关性。
前瞻性队列研究。
研究地点：参与者于 2021 年至 2022 年间进行了临床检查。记录了面部和眼前节照片、术前和术后眼部参数以及医疗和家族史。使用全外显子组测序数据进行生物信息学分析。使用基本特征、深度表型和基因型数据进行统计和相关性分析。
115 名无亲缘关系的先天性白内障患者。
对所有参与者进行临床检查、全外显子组测序和生物信息学分析。
综合征型先天性白内障遗传诊断率相关的因素。
双侧不对称性白内障与综合征型先天性白内障相关。该队列的总体遗传诊断率为 72.2%。在总共的 34.8%的患者中，通过遗传信息可以早期诊断出各种综合征。一些基因和深度表型之间存在表型-基因型相关性。
我们强调了在患有不对称性先天性白内障的患者中筛查综合征疾病的重要性。全外显子组测序的应用有助于为综合征型先天性白内障患者提供早期诊断和治疗。本研究还实现了高的遗传诊断率，扩大了基因型谱，并发现了表型-基因型相关性。对白内障对称性、家族史和深度表型的综合分析使某些先天性白内障患者的基因型预测成为可能。
