Liu Jingshu, Zhang Yongjin, Xuan Yi, Liu Wei, Wang Min
Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai, China.
Ophthalmic Res. 2016;56(4):178-185. doi: 10.1159/000444681. Epub 2016 Apr 15.
To describe the clinical features and to analyze BEST1 mutations in patients with Best vitelliform macular dystrophy (BVMD).
Thirteen individuals affected by BVMD from 6 unrelated Chinese families were studied. Complete ophthalmological examinations were performed, and the BEST1 gene was screened in all participants and 100 controls. Follow-ups were arranged within 12 months.
All 6 probands showed typical fundus appearances of BVMD. One of the 6 had a history of angle closure glaucoma, and another showed a unilateral focal choroidal excavation on optical coherence tomography. One patient experienced progression of the macular lesion during the follow-up. The asymptomatic mutation carriers had normal fundus but abnormal Arden ratios on electro-oculograms. Besides 4 previously reported mutations (p.Ser16Phe, p.Ser144Asn, p.Glu292Lys, p.Glu300Lys), 2 novel disease-causing mutations (p.Thr307Asp, p.Arg47His) were identified, of which p.Arg47His has been reported in adult-onset vitelliform macular dystrophy.
Our findings have expanded the mutational and clinical spectrum of BVMD in a Chinese population. Clinical presentations of angle closure glaucoma and/or focal choroidal excavation may be related to BVMD, underlining the necessity of multimodal studies and risk assessment of angle closure glaucoma in BEST1 mutation carriers. BVMD and adult-onset vitelliform macular dystrophy may share a common etiology in some cases.
描述Best卵黄样黄斑营养不良（BVMD）患者的临床特征并分析BEST1基因突变情况。
对来自6个不相关中国家庭的13例BVMD患者进行研究。对所有参与者及100名对照者进行了全面的眼科检查，并对BEST1基因进行了筛查。在12个月内安排了随访。
所有6例先证者均表现出典型的BVMD眼底表现。6例中有1例有闭角型青光眼病史，另1例在光学相干断层扫描上显示单侧局灶性脉络膜凹陷。1例患者在随访期间黄斑病变有进展。无症状突变携带者眼底正常，但眼电图Arden比值异常。除了4种先前报道的突变（p.Ser16Phe、p.Ser144Asn、p.Glu292Lys、p.Glu300Lys）外，还鉴定出2种新的致病突变（p.Thr307Asp、p.Arg47His），其中p.Arg47His在成人型卵黄样黄斑营养不良中已有报道。
我们的研究结果扩展了中国人群中BVMD的突变和临床谱。闭角型青光眼和/或局灶性脉络膜凹陷的临床表现可能与BVMD有关，强调了对BEST1突变携带者进行多模式研究和闭角型青光眼风险评估的必要性。在某些情况下，BVMD和成人型卵黄样黄斑营养不良可能有共同的病因。
