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Ophthalmic Genetics Volume 32, 2011 - Issue 2
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Case Reports

An Atypical Form of Bietti Crystalline Dystrophy

Settimio RossiDepartment of Ophthalmology, Second University of Naples, Napoli, Italy
,
Francesco TestaDepartment of Ophthalmology, Second University of Naples, Napoli, ItalyCorrespondence[email protected]
,
Anren LiOphthalmic Genetics and Visual Function Branch, National Eye Institute, Rockville, Maryland, USA
,
Valentina Di IorioDepartment of Ophthalmology, Second University of Naples, Napoli, Italy
,
Jun ZhangLaboratory of Immunology, National Eye Institute, NIH, Bethesda, Maryland, USA
,
Carlo GesualdoDepartment of Ophthalmology, Second University of Naples, Napoli, Italy
,
Michele Della CorteDepartment of Ophthalmology, Second University of Naples, Napoli, Italy
,
Chi-Chao ChanLaboratory of Immunology, National Eye Institute, NIH, Bethesda, Maryland, USA
,
J. Fielding HejtmancikOphthalmic Genetics and Visual Function Branch, National Eye Institute, Rockville, Maryland, USA
&
Francesca SimonelliDepartment of Ophthalmology, Second University of Naples, Napoli, Italy
 show all
Pages 118-121 | Received 16 Nov 2010, Accepted 20 Jan 2011, Published online: 08 Mar 2011

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Ali Osman Saatci, Ferdane Ataş, Gökhan Ozan Çetin & Mustafa Kayabaşı. (2023) Diagnostic and Management Strategies of Bietti Crystalline Dystrophy: Current Perspectives. Clinical Ophthalmology 17, pages 953-967.
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Mariko Nakano, Catherine M. Lockhart, Edward J. Kelly & Allan E. Rettie. (2014) Ocular cytochrome P450s and transporters: roles in disease and endobiotic and xenobiotic disposition. Drug Metabolism Reviews 46:3, pages 247-260.
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Articles from other publishers (14)

Yulia Haraguchi, Tsun-Kang Chiang & Minzhong Yu. (2023) Application of Electrophysiology in Non-Macular Inherited Retinal Dystrophies. Journal of Clinical Medicine 12:21, pages 6953.
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Ruixuan Jia, Xiang Meng, Shaohong Chen, Fan Zhang, Juan Du, Xiaozhen Liu & Liping Yang. (2023) AAV-mediated gene-replacement therapy restores viability of BCD patient iPSC derived RPE cells and vision of Cyp4v3 knockout mice . Human Molecular Genetics 32:1, pages 122-138.
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Zhiwei Ma, Xiaodong Jiao, Martin-Paul Agbaga, Robert E. Anderson, Haohua Qian, Qian Li, Lijin Dong & J. Fielding Hejtmancik. (2022) A Bietti Crystalline Dystrophy Mouse Model Shows Increased Sensitivity to Light-Induced Injury. International Journal of Molecular Sciences 23:21, pages 13108.
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Shengjuan Zhang, Lifei Wang, Zhiqiang Liu, Huijing Sun, Qian Li, Chen Xing, Zhe Xiao & Xiaoyan Peng. (2021) Observation of the characteristics of the natural course of Bietti crystalline dystrophy by fundus fluorescein angiography. BMC Ophthalmology 21:1.
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Kai Yip Choi, Horace Ho Yin Wong & Henry Ho Lung Chan. (2021) Utilizing Advanced Technology to Facilitate Diagnosis of Rare Retinal Disorders: A Case of Bietti Crystalline Dystrophy. Optometry and Vision Science 98:9, pages 1031-1038.
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Wei Wang, Wei Chen, Xinyue Bai & Ling Chen. (2020) Multimodal imaging features and genetic findings in Bietti crystalline dystrophy. BMC Ophthalmology 20:1.
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Wajiha Jurdi Kheir, Minzhong Yu, Alfonso Senatore, Alessandro Racioppi, Roberto Gattegna, Donnell Creel & Alessandro Iannaccone. 2019. Handbook of Clinical Electrophysiology of Vision. Handbook of Clinical Electrophysiology of Vision 77 109 .
Gerardo Pedro García‐García, Magdalena Martínez‐Rubio, Medina‐Azahara Moya‐Moya, Juan José Pérez‐Santonja & Julio Escribano. (2018) Identification of novel CYP 4V2 genotypes associated with Bietti crystalline dystrophy and atypical anterior segment phenotypes in Spanish patients . Acta Ophthalmologica 96:7.
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Muhammed Şahin, Adnan Yıldırım, Fatih Mehmet Türkcü, Harun Yüksel & Alparslan Şahin. (2016) Bietti Crystalline Retinal Dystrophy: A Case Report. Journal of Clinical and Experimental Investigations 7:1.
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Danny S.C. Ng, Timothy Y.Y. Lai, Tsz Kin Ng & Chi Pui Pang. (2016) Genetics of Bietti Crystalline Dystrophy. Asia-Pacific Journal of Ophthalmology 5:4, pages 245-252.
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Stephanie Halford, Gerald Liew, Donna S. Mackay, Panagiotis I. Sergouniotis, Richard Holt, Suzanne Broadgate, Emanuela V. Volpi, Louise Ocaka, Anthony G. Robson, Graham E. Holder, Anthony T. Moore, Michel Michaelides & Andrew R. Webster. (2014) Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy. Ophthalmology 121:6, pages 1174-1184.
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Houfa Yin, Chongfei Jin, Xiaoyun Fang, Qi Miao, Yingying Zhao, Zhiqing Chen, Zhaoan Su, Panpan Ye, Yao Wang & Jinfu Yin. (2014) Molecular Analysis and Phenotypic Study in 14 Chinese Families with Bietti Crystalline Dystrophy. PLoS ONE 9:4, pages e94960.
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Yanping Song, Guoyan Mo & Guohua Yin. (2012) A novel mutation in the CYP4V2 gene in a Chinese patient with Bietti’s crystalline dystrophy. International Ophthalmology 33:3, pages 269-276.
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Xueshan Xiao, Guiying Mai, Shiqiang Li, Xiangming Guo & Qingjiong Zhang. (2011) Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy. Biochemical and Biophysical Research Communications 409:2, pages 181-186.
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