Characterization of Bietti Crystalline Dystrophy Patients with<i>CYP4V2</i>Mutations

Abstract

This study identified novel mutations in the CYP4V2 gene as a cause of BCD. A high carrier frequency for the 15-bp deletion in exon 7 may exist in the Singapore population. Phenotype characterization showed clinical heterogeneity, and age did not correlate with disease severity.