Chapter

Retinal Degenerative Diseases

Volume 572 of the series Advances in Experimental Medicine and Biology pp 49-53

Bietti Crystalline Corneoretinal Dystrophy Associated with CYP4V2 Gene Mutations

  • Makoto Nakamura
  • , Jian Lin
  • , Koji Nishiguchi
  • , Mineo Kondo
  • , Jiro Sugita
  • , Yozo MiyakeAffiliated withDepartment of Ophthalmology, Nagoya University Graduate School of Medicine

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Abstract

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.