Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations

Makoto Nakamura, Jian Lin, Koji Nishiguchi, Mineo Kondo, Jiro Sugita, Yozo Miyake

Research output: Contribution to journalArticlepeer-review

15 Citations (Scopus)


Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive chorioretinal dystrophy characterized by progressive night blindness, tiny, yellowish, glistening retinal crystals, choroidal sclerosis, and crystalline deposits in the peripheral cornea. Recent studies have demonstrated that the CYP4V2 gene which encodes a CYP450 family protein is the causative gene of the disease. We have identified a homozygous mutation in the CYP4V2 gene in 8 separate Japanese patients with BCD and conclude that mutations in the CYP4V2 gene are the major cause of BCD. The IVS6-8_c.810del/insGC mutation is found at a higher frequency in the Asian populations suggesting a founder effect.

Original languageEnglish
Pages (from-to)49-53
Number of pages5
JournalAdvances in experimental medicine and biology
Publication statusPublished - 2005 Dec 1
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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