Novel CYP4V2 mutations associated with Bietti crystalline corneoretinal dystrophy in Chinese patients

International Journal of Ophthalmology

Volumn 8, Issue 3, 2015, Pages 465-469

  Tian, Rong ^a   Wang, Shu Ran ^a   Wang, Jing ^a   Chen, You Xin ^a  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

Author keywords

Bietti s dystrophy; Corneoretinal dystrophy; CYP4V2 gene; Mutation

Indexed keywords

EID: 84938855339     PISSN: 22223959     EISSN: 22274898     Source Type: Journal    
DOI: 10.3980/j.issn.2222-3959.2015.03.06     Document Type: Article

References (23)

1. Bietti G. Ueber familiaeres Vorkommen von 'Retinitis punctata albescens' (verbunden mit 'Dystrophia marginalis cristallinea corneae'), Glitzern des Glaskoerpers und anderen degenerativen Augenveraenderungen. Klin Mbl Augenheilk 1937; 99: 737-757.
2. Bagolini B, Ioli-Spada G. Bietti's tapetoretinal degeneration with marginal corneal dystrophy. Am J Ophthalmol 1968; 65(1): 53-60.
3. 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; 118(5): 569-582.
4. Hu DN. Genetic aspects of retinitis pigmentosa in China. Am J Med Genet 1982; 12(1): 51-56.
5. Hu DN. Ophthalmic genetics in China. Ophthal Paediat Genet 1983; 2: 39-45.
6. Jiao X, Munier FL, Iwata F, Hayakawa M, Kanai A, Lee J, Schorderet DF, Chen MS, Kaiser-Kupfer M, Hejtmancik JF. Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35. Am J Hum Genet 2000; 67(5): 1309-1313.
7. Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, 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; 74(5): 817-826.
8. 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; 65(2): 143-154.
9. Lee J, Jiao X, Hejtmancik JF, Kaiser-Kupfer M, Gahl WA, Markello TC, Guo J, Chader GJ. The metabolism of fatty acids in human Bietti crystalline dystrophy. Invest Ophthalmol Vis Sci 2001; 42(8): 1707-1714.
10. Yokoi Y, Sato K, Aoyagi H, Takahashi Y, Yamagami M, Nakazawa M. A novel compound heterozygous mutation in the CYP4V2 gene in a Japanese patient with Bietti's crystalline corneoretinal dystrophy. Case Rep Ophthalmol 2011; 2(3): 296-301.
11. Xiao X, Mai G, Li S, Guo X, Zhang Q. Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy. Biochem Biophys Res Commun 2011; 409(2): 181-186.
12. Haddad NM, Waked N, Bejjani R, Khoueir Z, Chouery E, Corbani S, Mégarbané A. Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation. Mol Vis 2012; 18: 1182-1188.
13. Gupta B, Parvizi S, Mohamed MD. Bietti crystalline dystrophy and choroidal neovascularisation. Int Ophthalmol 2011; 31(1): 59-61.
14. Lai TY, Ng TK, Tam PO, Yam GH, Ngai JW, Chan WM, Liu DT, Lam DS, Pang CP. Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations. Invest Ophthalmol Vis Sci 2007; 48(11): 5212-5220.
15. Yin H, Jin C, Fang X, Miao Q, Zhao Y, Chen Z, Su Z, Ye P, Wang Y, Yin J. Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy. PLoS One 2014; 9(4): e94960.
16. 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 crystalline corneoretinal dystrophy. J Med Genet 2005; 42(6): e38.
17. Chan WM, Pang CP, Leung AT, Fan DS, Cheng AC, Lam DS. Bietti crystalline retinopathy affecting all 3 male siblings in a family. Arch Ophthalmol 2000; 118(1): 129-131.
18. Shan M, Dong B, Zhao X, Wang J, Li G, Yang Y, Li Y. Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy. Mol Vis 2005; 11: 738-743.
19. Zenteno JC, Ayala-Ramirez R, Graue-Wiechers F. Novel CYP4V2 gene mutation in a Mexican patient with Bietti's crystalline corneoretinal dystrophy. Curr Eye Res 2008; 33(4): 313-318.
20. Wada Y, Abe T, Shiono T, Tamai M. Specular microscopic findings of corneal deposits in patients with Bietti's crystalline corneal retinal dystrophy. Br J Ophthalmol 1999; 83(9): 1095.
21. Atmaca LS, Muftuoglu O, Atmaca-Sonmez P. Peripapillary choroidal neovascularization in Bietti crystalline retinopathy. Eye (Lond)2007; 21(6): 839-842.
22. Le Tien V, Atmani K, Querques G, Massamba N, Souied EH. Ranibizumab for subfoveal choroidal neovascularization in Bietti crystalline retinopathy. Eye (Lond) 2010; 24(11): 1728-1729.
23. Mamatha G, Umashankar V, Kasinathan N, Krishnan T, Sathyabaarathi R, Karthiyayini T. Molecular screening of the CYP4V2 gene in Bietti crystalline dystrophy that is associated with choroidal neovascularization. Mol Vis 2011; 17: 1970-1977.