Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: Report on a novel mutation

Molecular Vision

Volumn 18, Issue , 2012, Pages 1182-1188

  Haddad, Nour Maya N ^a,c   Waked, Naji ^a   Bejjani, Riad ^a   Khoueir, Ziad ^a   Chouery, Eliane ^b   Corbani, Sandra ^b   Mégarbané, André ^b  

^a SAINT JOSEPH UNIVERSITY   (Lebanon)

^b SAINT JOSEPH UNIVERSITY   (Lebanon)

^c FONDATION OPHTALMOLOGIQUE ADOLPHE DE ROTHSCHILD   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGE; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIETTI CRYSTALLINE DYSTROPHY; CHOROID CAPILLARY LAYER; CLINICAL ARTICLE; COLOR VISION DEFECT; COLOR VISION TEST; CYP4V2 GENE; DISEASE SEVERITY; ELECTROOCULOGRAPHY; ELECTRORETINOGRAPHY; EXON; EYE EXAMINATION; FEMALE; FOLLOW UP; GENE SEQUENCE; HUMAN; HUMAN CELL; LEBANON; MALE; MISSENSE MUTATION; NIGHT BLINDNESS; OPHTHALMOSCOPY; PEDIGREE ANALYSIS; PHENOTYPE; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA DEGENERATION; RETINA FLUORESCEIN ANGIOGRAPHY; RETINA PIGMENT DEGENERATION; SYMPTOM; VISUAL FIELD; VISUAL IMPAIRMENT;

ADULT; AGED; ALLELES; BASE SEQUENCE; CORNEAL DYSTROPHIES, HEREDITARY; CYTOCHROME P-450 ENZYME SYSTEM; ELECTROOCULOGRAPHY; ELECTRORETINOGRAPHY; EXONS; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENES, RECESSIVE; HUMANS; LEBANON; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; RETINA; RETINAL DISEASES; SEQUENCE ANALYSIS, DNA;

EID: 84863311657     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

1. Lee KY, Koh AH, Aung T, Yong VH, Yeung K, Ang CL, Vithana EN. Characterisation of Bietti crystalline dystrophy with CYP4V2 mutations. Invest Ophthalmol Vis Sci 2005; 46:3812-6. [PMID: 16186368]
2. 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; 74:817-26. [PMID: 15042513]
3. Wada Y, Itabashi T, Sato H, Kawamura M, Tada A, Tamai M. Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy. Am J Ophthalmol 2005; 139:894-9. [PMID: 15860296]
4. 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:e38. [PMID: 15937078]
5. Gekka T, Hayashi T, Takeuchi T, Goto-Omoto S, Kitahara K. CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy. Ophthalmic Res 2005; 37:262-9. [PMID: 16088246]
6. 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; 11:738-43. [PMID: 16179904]
7. 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; 48:5212-20. [PMID: 17962476]
8. Mamatha G, Umashankar V, Kasinathan N, Krishnan T, Sathyabaarathi R, Karthiyayini T, Amali J, Rao C, Madhavan J. Molecular screening of the CYP4V2 gene in Bietti crystalline dystrophy that is associated with choroidal neovascularization. Mol Vis 2011; 17:1970-7. [PMID: 21850171]
9. 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; 409:181-6. [PMID: 21565171]
10. 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; 118:569-82. [PMID: 7977570]
11. Traboulsi EI, Faris BM. Crystalline retinopathy. Ann Ophthalmol 1987; 19:156-8. [PMID: 3619268]
12. Harrison RJ, Acheson RR, Dean Hart JC. Bietti's tapetoretinal degeneration with marginal corneal dystrophy. In: F Blodi, editor. Acta: XXVth Int Congr Ophthalmol, Rome, Italy, 1986;May 4-10, Milano: Kugler, Berkeley, Ghedini. p. 1111-1114.
13. Rossi S, Testa F, Li A, Iorio VD, Zhang J, Gesualdo C, Corte MD, Chan CC, Fielding Hejtmancik J, Simonelli F. An atypical form of bietti crystalline dystrophy. Ophthalmic Genet 2011; 32:118-21. [PMID: 21385027]
14. Usui T, Tanimoto N, Takagi M, Hasegawa S, Abe H. Rod and cone a-waves in three cases of Bietti crystalline chorioretinal dystrophy. Am J Ophthalmol 2001; 132:395-402. [PMID: 11530054]
15. 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; 42:1707-14. [PMID: 11431432]
16. 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; 65:143-54. [PMID: 9787106]