ClinicalTrials.gov NCT01947621.

population-based differences in genotype and phenotype heterogeneity are important for targeted and patient-specific diagnosis and treatment, counseling, and screening strategies.OBJECTIVE To report disease-causing variants and their detailed phenotype in patients with bilateral congenital cataract from a single center in Switzerland and thereby draw a genetic map and perform a genotype-phenotype comparison of this cohort.DESIGN, SETTING, AND PARTICIPANTS This clinical and molecular-genetic cohort study took place through the collaboration of the