At a glance
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Genetic Diagnosis and Phenotype-genotype Correlation in a Large Chinese Cohort of Congenital Cataracts
In Brief
An observational study evaluating Ophthalmic examination and Whole-exome sequencing for Congenital Cataract. Completed, enrolled 115 participants across 1 site.
Detailed 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.
Study Details
Timeline
Interventions
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.
Performing whole-exome sequencing and bioinformatics analysis.