Genetic Diagnosis in Congenital Cataracts

March 12, 2023 updated by: Weirong Chen, Zhongshan Ophthalmic Center, Sun Yat-sen University

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

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Actual)

115

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • China
    • Guangdong
      • Guangzhou, Guangdong, China, 510080
        • Zhongshan Ophthalmic Center, Sun Yat-sen University

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 second to 18 years (Child, Adult)

Accepts Healthy Volunteers

N/A

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

This prospective study was a part of an ongoing series at the Childhood Cataract Program of the Chinese Ministry of Health (CCPMOH), China. The cohort consisted of 115 bilateral congenital cataract probands who were consecutively enrolled.

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Bilateral congenital cataract probands who were consecutively enrolled
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Whether the participant has pathogenic genes
Time Frame: 2 years
2 years
Type of the cataracts
Time Frame: 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)
before surgery

Secondary Outcome Measures

Outcome Measure
Time Frame
Whether the participant has family history
Time Frame: 2 years
2 years
The symmetricity of the type of cataract
Time Frame: before surgery
before surgery

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Zhongshan Ophthalmic Center, Sun Yat-sen University

Investigators

  • Principal Investigator: Weirong Chen, PhD, Zhongshan Ophthalmic Center, Sun Yat-sen University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 1, 2021

Primary Completion (Actual)

December 31, 2022

Study Completion (Actual)

December 31, 2022

Study Registration Dates

First Submitted

March 12, 2023

First Submitted That Met QC Criteria

March 12, 2023

First Posted (Actual)

March 23, 2023

Study Record Updates

Last Update Posted (Actual)

March 23, 2023

Last Update Submitted That Met QC Criteria

March 12, 2023

Last Verified

March 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2020KYPJ004

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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