Genetic Diagnosis in Congenital Cataracts
Study Details
Study Description
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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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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 Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Bilateral congenital cataract probands who were consecutively enrolled
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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.
|
Outcome Measures
Primary Outcome Measures
- 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
- Whether the participant has family history [2 years]
- The symmetricity of the type of cataract [before surgery]
Eligibility Criteria
Criteria
Inclusion Criteria:
-
The participant with bilateral congenital cataract;
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Have signed a consent form. .
Exclusion Criteria:
- The participant not identified with congenital cataract; 2. The participant with unilateral congenital cataract.
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Zhongshan Ophthalmic Center, Sun Yat-sen University | Guangzhou | Guangdong | China | 510080 |
Sponsors and Collaborators
- Zhongshan Ophthalmic Center, Sun Yat-sen University
Investigators
- Principal Investigator: Weirong Chen, PhD, Zhongshan Ophthalmic Center, Sun Yat-sen University
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- 2020KYPJ004