Genomic Approaches to Diagnosis in Congenital and Developmental Cataract: Comparison of Panel Versus Whole Genome Sequencing, Diagnostic Yield, Variant Spectrum, Genotype-Phenotype Correlations, and Implications for Counseling.

Abstract excerpt

PURPOSE: Congenital cataracts are a leading cause of childhood blindness, with clinical impact due both to visual impairment and associated systemic disorders. They exhibit clinical and genetic heterogeneity, with pathogenic variants identified in more than 100 genes complicating genotype-phenotype correlation. Accurate molecular diagnosis is essential for prognosis, reproductive counseling, and tailored...

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