A novel mutation of CYP4V2 gene associated with Bietti crystalline dystrophy complicated by choroidal neovascularization  

作　　者：Xin-Yao Han Lin-Qi Zhang Ji-Yang Tang Lyu-Zhen Huang Ran Tang Jin-Feng Qu 

机构地区：[1]Department of Ophthalmology,Peking University People’s Hospital,Eye Diseases and Optometry Institute,Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases,College of Optometry,Peking University Health Science Center,Beijing 100044,China

出　　处：《International Journal of Ophthalmology(English edition)》2022年第6期940-946,共7页国际眼科杂志（英文版）

基　　金：Supported by National Key R&D Program of China(No.2020YFC2008200);Capital Clinical Diagnosis and Treatment Technology Research and Demonstration Application Project of China(No.Z191100006619029)。

摘　　要：AIM: To investigate the clinical characteristics and genetic features of a Bietti crystalline dystrophy(BCD) proband in a Chinese family.METHODS: A Chinese female diagnosed with BCD complicated by bilateral choroidal neovascularization(CNV) and her parents underwent complete ophthalmic examinations, including fundus autofluorescence(AF), fundus photography(FP), fundus fluorescein angiography(FFA), visual field testing, full-field electroretinography(ERG), optical coherence tomography(OCT) and optical coherence tomography angiography(OCTA). The sequencing of the CYP4 V2 gene was performed to the whole family.RESULTS: Bilateral tiny glittering crystal-like deposits and differing extent of atrophy of the retinal pigment epithelium(RPE) were found in the posterior pole of her fundus. The diffuse hypo-fluorescence shown on AF images and window defects shown on FFA both indicated the atrophy of the RPE and choriocapillaris. OCT showed the thinning of the RPE and choriocapillaris layer, ellipsoid zone(EZ) band defect and CNV in both eyes. OCTA images proofed bilateral type 2 CNV. The visual field test showed central and paracentral scotoma. ERG showed a slightly decreased b-wave in scotopic ERG. Gene sequencing identified three mutations of the CYP4 V2 gene, c.802_807 del, c.810 del T, and c.1388 G>A. The mutation c.1388 G>A was a novel substitution mutation.CONCLUSION: The novel mutation c.1388 G>A may be a possible cause that could induce the clinical phenotype of BCD.

关 键 词：Bietti crystalline dystrophy retinal degeneration CYP4V2 gene choroidal neovascularization 

分 类 号：R773.4[医药卫生—眼科]