Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations

Advances in Experimental Medicine and Biology

Volumn 572, Issue , 2005, Pages 49-53

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

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANGIOGRAPHY; CORNEAL DYSTROPHIES, HEREDITARY; CYTOCHROME P-450 ENZYME SYSTEM; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; HOMOZYGOTE; HUMANS; JAPAN; MALE; MIDDLE AGED; MUTATION;

EID: 33747433413     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Conference Paper

References (13)

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2. Bagolini B, Ioli-Spada G. Bietti's tapetoretinal degeneration with marginal corneal dystrophy. Am J Ophthalmol. 1968 Jan;65(1):53-60.
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4. Yagasaki K, Miyake Y. [Crystalline retinopathy]. Nippon Ganka Gakkai Zasshi. 1986 May;90(5):711-9.
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8. Kaiser-Kupfer MI, Chan CC, Markello TC, Crawford MA, Caruso RC, Csaky KG, Guo J, Gahl WA. Clinical biochemical and pathologic correlations in Bietti's crystalline dystrophy. Am J Ophthalmol. 1994 Nov 15;118(5):569-82.
9. Yanagi Y, Tamaki Y, Takahashi H, Sekine H, Mori M, Hirato T, Okajima O. Clinical and functional findings in crystalline retinopathy. Retina. 2004 Apr;24(2):267-74.
10. Hu DN. Ophthalmic genetics in China. Ophthal Paediat Genet. 1983;2:39-45.
11. Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy CM, Alan LR, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet. 2004 May;74(5):817-26.
12. Lee J, Jiao X, Hejtmancik JF, Kaiser-Kupfer M, Chader GJ. Identification, isolation, and characterization of a 32-kDa fatty acid-binding protein missing from lymphocytes in humans with Bietti crystalline dystrophy (BCD). Mol Genet Metab. 1998 Oct;65(2):143-54.
13. Lin J, Nishiguchi KM, Nakamura M, Dryja TP, Berson EL, Miyake Y. Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crytalline corneoretinal dystrophy. J Med Genet. (in press)