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Bilaterally asymmetrical cataracts are linked to syndromic congenital cataracts, with a high genetic diagnostic yield of 72.2% achieved through whole-exome sequencing, enabling early diagnoses and treatments based on specific genotype-phenotype correlations.
The following is a summary of “Early Diagnosis of syndromic congenital cataracts in a Large Cohort of Congenital Cataracts,” published in the January 2024 issue of Ophthalmology by Wang et al.
This study aimed to investigate factors influencing the diagnostic yield of syndromic congenital cataracts and delineate the relationship between phenotype and genotype among patients with congenital cataracts.
The study involved clinical evaluations conducted between 2021 and 2022, encompassing participants who underwent comprehensive examinations. The assessments included facial and anterior eye segment photographs, pre- and post-operative ocular parameters, and detailed medical and family histories. Whole-exome sequencing (WES) and subsequent bioinformatics analyses were performed using collected data. Statistical analyses examined the correlation between basic characteristics, detailed phenotypes, and genotype data from 115 unrelated congenital cataract patients.
Bilaterally asymmetrical cataracts were linked to syndromic congenital cataracts. The overall genetic diagnostic yield in the cohort was 72.2%, with 34.8% of probands being early diagnosed with various syndromes aided by genetic information. Significant phenotype-genotype correlations were observed for specific genes and deep phenotypes.
The identification of syndromic diseases in individuals presenting with asymmetrical congenital cataracts was emphasized. Using WES facilitated early diagnoses and subsequent treatments for patients with syndromic congenital cataracts. This study achieved a high genetic diagnostic yield, broadened the genotypic spectrum, and revealed associations between specific genotypes and phenotypes. A comprehensive analysis integrating cataract symmetry, family history, and detailed phenotypes contributed to the successful prediction of genotypes in some congenital cataract patients.
Source: sciencedirect.com/science/article/abs/pii/S0002939423004518