Clinical trial NCT05782452: Genetic Diagnosis in Congenital Cataracts
Official title: Genetic Diagnosis and Phenotype-genotype Correlation in a Large Chinese Cohort of Congenital Cataracts
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Congenital Cataract
Keywords: Congenital cataract
Genetic diagnosis
Phenotype-genotype correlation
Lead sponsor: Zhongshan Ophthalmic Center, Sun Yat-sen University
Sponsor class: OTHER
First posted: 2023-03-23
Enrollment: 115
Sex: ALL
Minimum age (years): 0
Maximum age (years): 18
Standard ages: CHILD
ADULT
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
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.

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.

Eligibility criteria: 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.

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Primary outcomes:
measure: Whether the participant has pathogenic genes
timeFrame: 2 years
measure: Type of the cataracts
timeFrame: before surgery
Secondary outcomes:
measure: Whether the participant has family history
timeFrame: 2 years
measure: The symmetricity of the type of cataract
timeFrame: before surgery
Other outcomes:
Locations:
city: Guangzhou
country: China
facility: Zhongshan Ophthalmic Center, Sun Yat-sen University
state: Guangdong
Study officials:
affiliation: Zhongshan Ophthalmic Center, Sun Yat-sen University
name: Weirong Chen, PhD
role: PRINCIPAL_INVESTIGATOR
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