MedTrace Logo

Genetic Diagnosis in Congenital Cataracts

NCT05782452 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 115

Last updated 2023-03-23

No results posted yet for this study

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.

Conditions

  • Congenital Cataract

Interventions

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.

Sponsors & Collaborators

  • Zhongshan Ophthalmic Center, Sun Yat-sen University

    lead OTHER

Principal Investigators

  • Weirong Chen, PhD · Zhongshan Ophthalmic Center, Sun Yat-sen University

Eligibility

Min Age
0 Years
Max Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-01-01
Primary Completion
2022-12-31
Completion
2022-12-31

Countries

  • China

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05782452 on ClinicalTrials.gov