Genetic Diagnosis in Congenital Cataracts

Completed

• Conditions: Congenital Cataract
• Interventions: Procedure: Ophthalmic examination; Genetic: Whole-exome sequencing

• Registration Number: NCT05782452
• Lead Sponsor: Zhongshan Ophthalmic Center, Sun Yat-sen University

Brief 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.

Study Timeline

• Study Start: 2021-01-01
• Primary Completion: 2022-12-31
• Study Completion: 2022-12-31
• Status Verified: 2023-03
• Study First Submitted: 2023-03-12
• Study First Submitted QC: 2023-03-12
• Last Update Submitted: 2023-03-12
• Study First Posted: 2023-03-23
• Last Update Posted: 2023-03-23

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 115

Inclusion Criteria

1. The participant with bilateral congenital cataract;
2. Have signed a consent form. .

Exclusion Criteria

1. The participant not identified with congenital cataract; 2. The participant with unilateral congenital cataract.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Bilateral congenital cataract probands who were consecutively enrolled	Whole-exome sequencing	-
Bilateral congenital cataract probands who were consecutively enrolled	Ophthalmic examination	-

Primary Outcome Measures

Name	Time	Method
Whether the participant has pathogenic genes	2 years
Type of the cataracts	before surgery	The cataracts were categorized into 17 groups (Membranous cataract, Thin and fibrotic nuclear cataract, Nuclear cataract, Zonular cataract, Pulverulent cataract, Pocket-like cataract, "Ant egg" cataract, Cerulean cataract, Coronary cataract, Coralliform cataract, Cortical cataract, Sutural cataract, Anterior subcapsular cataract, Anterior polar cataract, Posterior subcapsular cataract, Posterior polar cataract, Total cataract)

Secondary Outcome Measures

Name	Time	Method
Whether the participant has family history	2 years
The symmetricity of the type of cataract	before surgery

Trial Locations

Locations (1)

Zhongshan Ophthalmic Center, Sun Yat-sen University; 🇨🇳 Guangzhou, Guangdong, China