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Keratoconus and cataract are common causes of visual morbidity. Both conditions show genetic predisposition. The purpose of this study was to map the disease locus in a large three-generation family affected by combined early-onset autosomal dominant anterior polar cataract and clinically severe keratoconus. Uniquely, in this family both disorders were present and fully penetrant in those affected.

Familial Keratoconus with Cataract: Linkage to the Long Arm of Chromosome 15 and Exclusion of Candidate Genes