先证者
医学
视网膜电图
桑格测序
眼科
眼底(子宫)
复合杂合度
遗传学
Erg公司
表型
突变
视网膜
生物
基因
作者
Satoshi Katagiri,Takaaki Hayashi,Yasuhiro Ohkuma,Tetsuju Sekiryu,Tomokazu Takeuchi,Tamaki Gekka,Mineo Kondo,Takeshi Iwata,Hiroshi Tsuneoka
标识
DOI:10.1136/bjophthalmol-2015-306830
摘要
Purpose
To describe the clinical and genetic features of Japanese patients with Best9s vitelliform macular dystrophy (BVMD). Patients and methods
This study examined 22 patients, including 16 probands from 16 families with BVMD. Comprehensive ophthalmic examinations were performed, including dilated funduscopy, full-field electroretinography (ERG) and electro-oculography (EOG). BEST1 mutation analysis was performed by Sanger sequencing. Results
All 16 probands exhibited characteristic BVMD fundus appearances, abnormal EOG, and normal ERG responses with the exception of one diabetic retinopathy proband. Genetic analysis identified 12 BEST1 variants in 13 probands (81%). Of these, 10 variants (p.T2A, p.R25W, p.F80L, p.V81M, p.A195V, p.R218H, p.G222E, p.V242M, p.D304del and p.E306D) have been previously reported in BVMD, while two variants (p.S7N and p.P346H) were novel, putative disease-causing variants. Single BEST1 variants were found in 12 probands. The one proband with compound heterozygous variants (p.S7N and p.R218H) exhibited typical BVMD phenotypes (pseudohypopyon stage and vitelliruptive stage in the right and left eyes, respectively). Conclusions
Twelve different variants, two of which (p.S7N and p.P346H) were novel, were identified in the 13 Japanese families with BVMD. Compound heterozygous variants were found in one proband exhibiting a typical BVMD phenotype. Our results suggest that BEST1 variants do play a large role in Japanese patients with BVMD.
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