NCT05782452

Genetic Diagnosis in Congenital Cataracts

Genetic Diagnosis and Phenotype-genotype Correlation in a Large Chinese Cohort of Congenital Cataracts

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 115 (actual)
• Sponsor: Zhongshan Ophthalmic Center, Sun Yat-sen University · Academic / Other
• Sex: All
• Age: 0 Years – 18 Years
• Healthy volunteers: —

Summary

The prediction of genetic risk in congenital cataract patients has great clinical significance. In this trial, the investigators aim to screen the causative variants from 115 unrelated bilateral congenital cataract patients enrolled consecutively, describe novel and recurrent variants, analyze the factors affecting genetic diagnostic yield, and explore potential phenotype-genotype correlation.

Detailed description

Determining whether the disease is hereditary and the precise genetic cause of congenital cataract has great clinical significance in guiding genetic counseling and improving clinical care pathway. Varying among studies, genetic causes account for 8.3-85% of congenital cataracts because of the difference in ethnic background, genetic screening techniques used, the percentage of patients with bilateral cataracts, with a family history, and with syndromic disease. A phenotype-genotype correlation may be used to predict the causative genes, and the involvement of other tissues and organs based on the appearance of the lens. In addition, it can be used to improve our understanding of lens biology. A phenotype-genotype correlation is difficult to establish because of the genotypic and phenotypic heterogeneity of congenital cataracts. In this trail, the investigators aim to screen the causative variants from 115 unrelated bilateral congenital cataract patients enrolled consecutively, describe novel and recurrent variants, analyze the factors affecting genetic diagnostic yield, and explore potential phenotype-genotype correlation. Facial and anterior eye segment photographs, pre- and post-operative 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.

Conditions

• Congenital Cataract

Interventions

Type	Name	Description
PROCEDURE	Ophthalmic examination	Facial photographs of the participants were obtained at the time of enrolment. Pre- and post-operative anterior eye segment photographs were obtained under diffuse, direct focal and retro illumination. Clinical data, including basic information, family history, and comprehensive pre- and post-operative ophthalmic examination findings, were recorded.
GENETIC	Whole-exome sequencing	Performing whole-exome sequencing and bioinformatics analysis.

Timeline

• Start date: 2021-01-01
• Primary completion: 2022-12-31
• Completion: 2022-12-31
• First posted: 2023-03-23
• Last updated: 2023-03-23

Locations

1 site across 1 country: China