Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy

Ophthalmology

Volumn 121, Issue 6, 2014, Pages 1174-1184

  Halford, Stephanie ^a   Liew, Gerald ^b,c   MacKay, Donna S ^c   Sergouniotis, Panagiotis I ^c,d   Holt, Richard ^a   Broadgate, Suzanne ^a   Volpi, Emanuela V ^e   Ocaka, Louise ^f   Robson, Anthony G ^c,d   Holder, Graham E ^c,d   Moore, Anthony T ^c,d   Michaelides, Michel ^c,d   Webster, Andrew R ^c,d  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF SYDNEY   (Australia)

^c MOORFIELDS EYE HOSPITAL   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOFLUORESCENCE IMAGING; BIETTI CRYSTALLINE DYSTROPHY; BRUCH MEMBRANE; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; CYP4V2 GENE; DISEASE SEVERITY; ELECTROPHYSIOLOGY; ELECTRORETINOGRAM; EXON; EYE PHOTOGRAPHY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NEAR INFRARED SPECTROSCOPY; OPTICAL COHERENCE TOMOGRAPHY DEVICE; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINA PIGMENT DEGENERATION; SINGLE NUCLEOTIDE POLYMORPHISM; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; VISUAL ACUITY;

ADULT; AGED; COMPARATIVE GENOMIC HYBRIDIZATION; CORNEAL DYSTROPHIES, HEREDITARY; CYTOCHROME P-450 ENZYME SYSTEM; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EXONS; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENETIC ASSOCIATION STUDIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MIDDLE AGED; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINAL DISEASES; RETINAL PIGMENT EPITHELIUM; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; YOUNG ADULT;

EID: 84901782107     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2013.11.042     Document Type: Article

References (44)

1. Okialda KA, Stover NB, Weleber RG, Kelly EJ. Bietti crystalline dystrophy. 1993. In: Pagon RA, Adam MP, Bird TD, et al, eds. Gene Reviews [database online]. Available at: http://www.ncbi.nlm.nih.gov/books/NBK91457/. Accessed August 1, 2013.
2. X. Jiao, F.L. Munier, and F. Iwata et al. Genetic linkage of Bietti crystalline corneoretinal dystrophy to chromosome 4q35 Am J Hum Genet 67 2000 1309 1313
3. A. Li, X. Jiao, and F.L. Munier et al. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2 Am J Hum Genet 74 2004 817 826 (Pubitemid 38568957)
4. H. Kojima, A. Otani, and K. Ogino et al. Outer retinal circular structures in patients with Bietti crystalline retinopathy Br J Ophthalmol 96 2012 390 393
5. K.Y. Lee, A.H. Koh, and T. Aung et al. Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations Invest Ophthalmol Vis Sci 46 2005 3812 3816 (Pubitemid 44264691)
6. B. Manzouri, P.I. Sergouniotis, and A.G. Robson et al. Bietti crystalline retinopathy: report of retinal crystal deposition in male adolescent siblings Arch Ophthalmol 130 2012 1470 1473
7. M.E. Pennesi, and R.G. Weleber High-resolution optical coherence tomography shows new aspects of Bietti crystalline retinopathy Retina 30 2010 531 532
8. S. Rossi, F. Testa, and A. Li et al. Clinical and genetic features in Italian Bietti crystalline dystrophy patients Br J Ophthalmol 97 2013 174 179
9. L. Toto, P. Carpineto, and M.B. Parodi et al. Spectral domain optical coherence tomography and in vivo confocal microscopy imaging of a case of Bietti's crystalline dystrophy Clin Exp Optom 96 2013 39 45
10. M. Yuzawa, Y. Mae, and M. Matsui Bietti's crystalline retinopathy Ophthalmic Paediatr Genet 7 1986 9 20 (Pubitemid 16084525)
11. R.G. Weleber, and D.J. Wilson Bietti's crystalline dystrophy of the cornea and retina J.R. Heckenlively, G.B. Arden, Principles and Practice of Clinical Electrophysiology of Vision 2nd ed 2006 MIT Press Cambridge, MA 735 744
12. M.F. Marmor, A.B. Fulton, and G.E. Holder et al. International Society for Clinical Electrophysiology of Vision. ISCEV standard for full-field clinical electroretinography (2008 update) Doc Ophthalmol 118 2009 69 77
13. G.E. Holder, M.G. Brigell, and M. Hawlina et al. International Society for Clinical Electrophysiology of Vision. ISCEV standard for clinical pattern electroretinography (2007 update) Doc Ophthalmol 114 2007 111 116 (Pubitemid 46681692)
14. M. Bach, M.G. Brigell, and M. Hawlina et al. ISCEV standard for clinical pattern electroretinography (PERG): 2012 update Doc Ophthalmol 126 2013 1 7
15. T.Y. Lai, T.K. Ng, and P.O. Tam et al. Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations Invest Ophthalmol Vis Sci 48 2007 5212 5220 (Pubitemid 351260934)
16. T. Gekka, T. Hayashi, and T. Takeuchi et al. CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy Ophthalmic Res 37 2005 262 269 (Pubitemid 41291539)
17. N.M. Haddad, N. Waked, and R. Bejjani et al. Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation Mol Vis [serial online] 18 2012 1182 1188 Available at http://www.molvis.org/molvis/v18/a124/ Accessed August 1, 2013
18. Z.B. Jin, S. Ito, and Y. Saito et al. Clinical and molecular findings in three Japanese patients with crystalline retinopathy Jpn J Ophthalmol 50 2006 426 431 (Pubitemid 44496508)
19. J. Lin, K.M. Nishiguchi, and M. Nakamura et al. Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy [report online] J Med Genet 42 2005 e38 Available at http://jmg.bmj.com/content/42/6/e38.full.pdf+html Accessed August 1, 2013
20. M. Shan, B. Dong, and X. Zhao et al. Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy Mol Vis [serial online] 11 2005 738 743 Available at http://www.molvis.org/molvis/v11/a87/ Accessed August 1, 2013 (Pubitemid 41410199)
21. J.C. Zenteno, R. Ayala-Ramirez, and F. Graue-Wiechers Novel CYP4V2 gene mutation in a Mexican patient with Bietti's crystalline corneoretinal dystrophy Curr Eye Res 33 2008 313 318 (Pubitemid 351507756)
22. Y. Wada, T. Itabashi, and H. Sato et al. Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy Am J Ophthalmol 139 2005 894 899 (Pubitemid 40614777)
23. Y. Yokoi, M. Nakazawa, and S. Mizukoshi et al. Crystal deposits on the lens capsules in Bietti crystalline corneoretinal dystrophy associated with a mutation in the CYP4V2 gene Acta Ophthalmol 88 2010 607 609
24. X. Xiao, G. Mai, and S. Li et al. Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy Biochem Biophys Res Commun 409 2011 181 186
25. S. Rossi, F. Testa, and A. Li et al. An atypical form of Bietti crystalline dystrophy Ophthalmic Genet 32 2011 118 121
26. D.N. Hu Ophthalmic genetics in China Ophthalmic Paediatr Genet 2 1983 39 45 (Pubitemid 13126895)
27. M.A. Lazow, D.C. Hood, and R. Ramachandran et al. Transition zones between healthy and diseased retina in choroideremia (CHM) and Stargardt disease (STGD) as compared to retinitis pigmentosa (RP) Invest Ophthalmol Vis Sci 52 2011 9581 9590
28. D.J. Wilson, R.G. Weleber, and M.L. Klein et al. Bietti's crystalline dystrophy: a clinicopathologic correlative study Arch Ophthalmol 107 1989 213 221 (Pubitemid 19055340)
29. M. Kaiser-Kupfer, C. Chan, and T. Markello et al. Clinical biochemical and pathologic correlations in Bietti's crystalline dystrophy Am J Ophthalmol 118 1994 569 582 (Pubitemid 24345618)
30. P.I. Sergouniotis, A.E. Davidson, and E. Lenassi et al. Retinal structure, function, and molecular pathologic features in gyrate atrophy Ophthalmology 119 2012 596 605
31. S.A. Zweifel, M. Engelbert, and K. Laud et al. Outer retinal tubulation: a novel optical coherence tomography finding Arch Ophthalmol 127 2009 1596 1602
32. B. Jurklies, C. Jurklies, U. Schmidt, and A. Wessing Bietti's crystalline dystrophy of the retina and cornea Retina 19 1999 168 171 (Pubitemid 30368166)
33. Y. Yanagi, Y. Tamaki, and H. Takahashi et al. Clinical and functional findings in crystalline retinopathy Retina 24 2004 267 274 (Pubitemid 38509615)
34. H. Chen, M. Zhang, S. Huang, and D. Wu Functional and clinical findings in 3 female siblings with crystalline retinopathy Doc Ophthalmol 116 2008 237 243 (Pubitemid 351586936)
35. D.S. Mackay, and S. Halford Focus on molecules: cytochrome P450 family 4, subfamily V, polypeptide 2 (CYP4V2) Exp Eye Res 102 2012 111 112
36. G.P. Garcia-Garcia, M.P. Lopez-Garrido, and M. Martinez-Rubio et al. Genotype-phenotype analysis of Bietti crystalline dystrophy in a family with the CYP4V2 Ile111Thr mutation Cornea 32 2013 1002 1008
37. G. Mamatha, V. Umashankar, and N. Kasinathan et al. Molecular screening of the CYP4V2 gene in Bietti crystalline dystrophy that is associated with choroidal neovascularization Mol Vis [serial online] 17 2011 1970 1977 Available at http://www.molvis.org/molvis/v17/a214/ Accessed August 1, 2013
38. Y. Song, G. Mo, and G. Yin A novel mutation in the CYP4V2 gene in a Chinese patient with Bietti's crystalline dystrophy Int Ophthalmol 33 2013 269 276
39. Y. Yokoi, K. Sato, and H. Aoyagi et al. A novel compound heterozygous mutation in the CYP4V2 gene in a Japanese patient with Bietti's crystalline corneoretinal dystrophy Case Rep Ophthalmol [serial online] 2 2011 296 301 Available at http://www.karger.com/Article/Abstract/331885 Accessed August 1, 2013
40. M. Nakano, E.J. Kelly, and C. Wiek et al. CYP4V2 in Bietti's crystalline dystrophy: ocular localization, metabolism of omega-3-polyunsaturated fatty acids, and functional deficit of the p.H331P variant Mol Pharmacol 82 2012 679 686
41. J. Lee, X. Jiao, and J.F. Hejtmancik et al. 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 65 1998 143 154 (Pubitemid 28507135)
42. J. Lee, X. Jiao, and J.F. Hejtmancik et al. The metabolism of fatty acids in human Bietti crystalline dystrophy Invest Ophthalmol Vis Sci 42 2001 1707 1714 (Pubitemid 32652343)
43. E.J. Kelly, M. Nakano, and P. Rohatgi et al. Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states Mol Interv 11 2011 124 132
44. M. Nakano, E.J. Kelly, and A.E. Rettie Expression and characterization of CYP4V2 as a fatty acid omega-hydroxylase Drug Metab Dispos 37 2009 2119 2122