Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy
characterized by multiple glistening intraretinal crystals scattered over the fundus, a
characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately
resulting in progressive night blindness and constriction of the visual field. The BCD region
of chromosome 4q35. 1 was refined to an interval flanked centromerically by D4S2924 by
linkage and haplotype analysis; mutations were found in the novel CYP450 family member …

Purpose: Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal
degeneration. We have previously mapped BCD to a locus on chromosome 4q35. The goal
of this study is to identify the gene for BCD. Methods: The BCD region was refined by linkage
analysis and haplotype analysis in 10 BCD families. A YAC/BAC/PAC contig was
constructed in BCD region for physical map. Candidate genes in this region were screened
for mutation by direct sequencing of PCR amplified exons from BCD patients. Gene …