Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2

Am J Hum Genet. 2004 May;74(5):817-26. doi: 10.1086/383228. Epub 2004 Mar 23.


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 CYP4V2 in 23 of 25 unrelated patients with BCD tested. The CYP4V2 gene, transcribed from 11 exons spanning 19 kb, is expressed widely. Homology to other CYP450 proteins suggests that CYP4V2 may have a role in fatty acid and steroid metabolism, consistent with biochemical studies of patients with BCD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 4 / genetics
  • Corneal Dystrophies, Hereditary / genetics*
  • Corneal Dystrophies, Hereditary / metabolism
  • Cytochrome P-450 Enzyme System / genetics*
  • Cytochrome P-450 Enzyme System / metabolism
  • Fatty Acids / metabolism
  • Female
  • Genes, Recessive / genetics
  • Genetic Linkage / genetics*
  • Genetic Markers / genetics
  • Haplotypes / genetics
  • Humans
  • Male
  • Microsatellite Repeats
  • Mutation / genetics*
  • Pedigree
  • Protein Conformation
  • RNA Splicing
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / metabolism
  • Steroids / metabolism


  • Fatty Acids
  • Genetic Markers
  • Steroids
  • Cytochrome P-450 Enzyme System

Associated data

  • OMIM/210370