ACLINICAL AND GENETIC FEATURES IN CHINESE BIETTI CRYSTALLINE DYSTROPHY (BCD) FAMILIES WITH CYP4V2 MUTATIONS.
- Department of Ophthalmology, Shanghai Tenth People?s Hospital, Tongji University, School of Medicine, Shanghai, China
- Department of Ophthalmology, Armed Force Referral and Teaching Hospital, Addis Ababa, Ethiopia
- Department of Biology, College of Natural Sciences, Arba Minch University, Arba Minch, Ethiopia
- State Key Laboratory of Pollution Control and Resource Reuse, College of Environmental Science and Engineering, Tongji University, Shanghai, China
- Cite This Article as
- Corresponding Author
Bietti crystalline dystrophy (BCD) is a rare autosomal recessive inherited disorder characterized by crystals in retinal pigment epithelium. The purpose of this study was to identify the genetic defect in Chinese families with BCD and analyze their clinical features. The clinical examination and genetic studies were performed in three BCD families at Tongji University Hospital. Eye examination included fundus fluorescein angiography, slit lamp, fundus photograph, optical coheres tomography and visual acuity examination has been carried out. Blood samples were collected from three pro-bands and their family members. Genomic DNA extracted from whole blood used for polymerase chain reaction (PCR) to identify genetic defect. Fundus examination revealed that the presence of tiny yellowish-sparkling crystals at the posterior pole of the fundus and atrophy of the retinal pigment epithelium in some patients. The PCR results also showed that three different mutations in the three families including Family C with compound heterozygous mutations of deletion c.802-8_810del17bpinsGT and insertion c.1062dupA, Family B with compound heterozygous mutations of a splicing mutation c.1091-2A>G and deletion mutation c.802-8_810del17bpinsGC and Family A with homozygous deletion mutation c.802-8_810del17bpinsGC. In this study, the PCR result also identified CYP4V2 as the disease causative gene in three Chinese families with BCD. Overall, these findings broaden the spectrum of CYP4V2 mutations that cause BCD and characterize phenotypic features of the disease in Chinese families.
- Abeshi, A., Bruson, A., Beccari, T., Dundar, M., Ziccardi, L., Bertelli, M., 2017. Genetic testing for bietti crystalline dystrophy. The Eurobiotech Journal 1, 564-615.
- Astuti, G., Sun, V., Bauwens, M., Leroy, D., Omar, A., Jurklies, B., Lopez, I., Ren, H., Yazar, V., Hamel, C., et al., 2015. Novel insights into the molecular pathogenesis of CYP4V2- associated Bietti?s retinal dystrophy. Molecular Genetics andGenomic Medicine 3, 14?29.
- Furusato, E., Ameron, J., Chan, C., 2010. Evolution of cellular inclusions in bietti?s crystalline dystrophy. Ophthalmology and Eye Diseases 2, 9?15.
- Ghosh, A., Dhawan, D., Chandratre, K., Chaudhary, S., Shah, B., Vudathala, S., Bagali, P., 2016. Molecular diagnosis of Inherited retinal diseaseswith non-specific clinical phenotypes using whole exome sequencing. Bioinformatics, Proteomics and Immaging Analysis 2, 125- 127.
- Gupta, B., Parvizi, S., Mohamed, M., 2010 Bietti crystalline dystrophy and choroidal neovascularisation. International Ophthalmology 31, 1-3.
- Haddad, N., Waked, N., Bejjani, R., Khoueir, Z., Chouery, E., Corbani, S., M?garban?, A., 2012. Clinical and molecular findings in three Lebanese families with bietti crystalline dystrophy: report on a novel mutation. Molecular Vision 18, 1182-1188.
- Kojima, H., Otani, A., Ogino, K., Nakagawa, S., Makiyama, Y., Kurimoto, M., Guo, C., Yoshimura, N., 2012 Outer retinal circular structures in patients with bietti crystalline retinopathy. British Journal of Ophthalmology 96, 390-393.
- Lai, T., Ng, T., Tam, P., Yam, J., Ngai, G., Chan, W., Liu, D., Yam, G., Lam, D., Pang, C., 2007. Genotype-phenotype analysis of bietti?s crystalline dystrophy in patients with CYP4V2 Investigative Ophthalmology and Visual Science 48, 5212-5220.
- Mamatha, G., Umashankar, V., Kasinathan, N., Krishnan, T., Sathyabaarathi, R., Karthiyayini, T., Amali, J., Rao, C., Madhavan, J., 2011. Molecular screening of the CYP4V2 gene in bietti crystalline dystrophy that is associated with choroidal neovascularization. Molecular Vision 17, 1970-1977.
- Nakano, M., Kelly, E., Wiek, C., Hanenberg, H., Rettie, A., 2012. CYP4V2 in bietti?s crystalline dystrophy ocular localization metabolism of -3-polyunsaturated fatty acids, and functional deficit of the p.H331P variant. Molecular Pharmacology 82, 679?686.
- Ng, D., Lai, T., Ng, K., Pang, C., 2016. Genetics of bietti crystalline dystrophy. Asia-Pacific Journal of Ophthalmology 5, 245?252.
- Rossi, S., Testa, F., Li, A., Iorio, V., Zhang, J., Gesualdo, C., Corte, M., Chan, C., Hejtmancik, J., Simonelli, F., 2011 An atypical form of bietti crystalline dystrophy. Ophthalmic Genetics 32, 1-9.
- Rossi, S., Testa, F., Li, A., Yaylacioğlu, F., Gesualdo, C., Hejtmancik, J., Simonelli, F., 2012. Clinical and genetic features in Italian bietti crystalline dystrophy patients. Clinical Science 97, 174-179.
- Song, Y., Mo, G., Yin, G., 2013 A novel mutation in the CYP4V2 gene in a chinese patient with bietti?s crystalline dystrophy. International Ophthalmology 33, 269-276.
- Tian, R., Wang, S., Wang, J., Chen, Y., 2015. Novel mutations associated with bietti crystalline corneoretinal dystrophy in chinese patients. International Journal of Ophthalmology 8, 465-469.
- Xiao, X., Mai, G., Li, S., Guo, X., Zhang, Q., 2011. Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in bietti crystalline corneoretinal dystrophy. Biochemical and Biophysical Research Communications 409, 181?186.
- Yin, H., Jin, C., Fang, X., Miao, Q., Zhao, Y., 2014. Molecular analysis and phenotypic study in 14 chinese families with bietti crystalline dystrophy. PLOS ONE 9, 1-10.
- Yin, X., Yang, B., Chen, B., Cui, A., Zhao, B., Feng, B., Li, B., Zhang, B., Ma, B., Li, A., 2016 Identification of CYP4V2 mutation in 36 chinese families with bietti crystalline corneoretinal dystrophy. Experimental Eye Research 146, 154-162.
- Yokoia, Y., Satob, K., Aoyagia, H., Takahashia, Y., Yamagamic, M., Nakazawaa, M., 2011. A novel compound heterozygous mutation in the CYP4V2 gene in a japanese patient with bietti?s crystalline corneoretinal dystrophy. Case Report in Ophthalmology 2, 296?301.
[Biresaw Demile, Awoke Guadie, Wenting Cai, Jianjun Chen, Zhong Zilin and Jing Yu. (2018); ACLINICAL AND GENETIC FEATURES IN CHINESE BIETTI CRYSTALLINE DYSTROPHY (BCD) FAMILIES WITH CYP4V2 MUTATIONS. Int. J. of Adv. Res. 6 (Apr). 1022-1027] (ISSN 2320-5407). www.journalijar.com
1Department of Ophthalmology, Shanghai Tenth People’s Hospital, Tongji University, School of Medicine, Shanghai, China
Article DOI: 10.21474/IJAR01/6944
DOI URL: http://dx.doi.org/10.21474/IJAR01/6944
Download Full PaperDownload PDF No. of Downloads: 14 | No. of Views: 130
This work is licensed under a Creative Commons Attribution 4.0 International License.