Clinical and Molecular Findings in Three Japanese Patients with Crystalline Retinopathy
Purchase on Springer.com
$39.95 / €34.95 / £29.95*
Rent the article at a discountRent now
* Final gross prices may vary according to local VAT.
To identify CYP4V2 mutations in three unrelated Japanese patients with Bietti crystalline corneoretinal dystrophy (BCD).
The three cases were diagnosed by ophthalmological examinations. All exons and flanking introns were amplified by polymerase chain reaction (PCR). PCR products were analyzed by direct sequencing. RNA was extracted from blood samples and analyzed by reverse transcriptase (RT)-PCR sequencing.
Direct PCR sequencing demonstrated a homozygous mutation involving a 17-bp deletion together with a 2-bp insertion (c.802-8del17bp/insGC) in case 1 and case 3, and RT-PCR demonstrated that the complete length of exon 7 was missing; case 2 showed only a heterozygous change in exon 11 with no second mutation.
A homozygous mutation was identified in two of the unrelated patients, and only a heterozygous change was detected in the third. These data indicate that c.802-8del17bp/insGC may be a frequent mutation in this gene. Jpn J Ophthalmol 2006;50:426–431 © Japanese Ophthalmological Society 2006
- Bietti, GB (1937) Su alcune forme atipiche o rare di degenerazione retinica (degenerazione tappetoretiniche e quadri morbosi similari. Boll Oculist 16: pp. 1159
- Jiao, X, Munier, FL, Iwata, F (2000) Genetic linkage of Bietti crystalline corneoretinal dystrophy to chromosome 4q35. Am J Hum Genet 67: pp. 1309-1313
- Li, A, Jiao, X, Munier, FL (2004) Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet 74: pp. 817-826 CrossRef
- Yanagi, Y, Tamaki, Y, Takahashi, H (2004) Clinical and functional findings in crystalline retinopathy. Retina 24: pp. 267-274 CrossRef
- Wada, Y, Itabashi, T, Sato, H (2005) Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy. Am J Ophthalmol 139: pp. 894-899 CrossRef
- Lin, J, Nishiguchi, KM, Nakamura, M (2005) Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy. J Med Genet 42: pp. e38 CrossRef
- Lee, KYC, Koh, AHC, Aung, T (2005) Characterization of Bietti's crystalline dystrophy patients with CYP4V2 mutations. Invest Ophthalmol Vis Sci 46: pp. 1841-1846 CrossRef
- Gekka, T, Hayashi, T, Takeuchi, T (2005) CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy. Ophthalmic Res 37: pp. 262-269 CrossRef
- Shan, M, Dong, B, Zhao, X (2005) Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy. Mol Vis 11: pp. 738-743
- Clinical and Molecular Findings in Three Japanese Patients with Crystalline Retinopathy
Japanese Journal of Ophthalmology
Volume 50, Issue 5 , pp 426-431
- Cover Date
- Print ISSN
- Online ISSN
- Additional Links
- Bietti crystalline corneoretinal dystrophy
- gene mutation
- Industry Sectors
- Author Affiliations
- A1. Department of Ophthalmology and Visual Science, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan
- A2. Department of Ophthalmology, National Hospital Organization, Osaka National Hospital, Osaka, Japan
- A3. Department of Ophthalmology, University of Tokyo School of Medicine, Tokyo, Japan