摘要目的 了解隐性遗传性卵黄样营养不良(ARB)的临床及视网膜影像学特点.方法 回顾性系列病例研究.收集于2010年12月至2016年6月就诊于首都医科大学附属北京同仁医院北京同仁眼科中心门诊,临床表现疑诊ARB的无血缘关系患者14例,男女各7例,平均年龄为28.5岁.分析所有患者的病历资料、临床检查资料和视网膜影像学即自发荧光共聚焦扫描激光检眼镜、频域相干光层析成像术(SD-OCT)和荧光素眼底血管造影(FFA)资料进行分析.10例患者完成BEST1基因测序.结果 ARB眼底病变显示为双眼分布于后极部(及赤道部)近似环形排列的多发视网膜下黄色物质沉积,在自发荧光和FFA下病灶显示更为清晰,在SD-OCT中对应视网膜色素上皮和Bruch膜之间及神经视网膜下的高反光.所有患者均有视网膜浆液性脱离,4例患者合并神经上皮层间劈裂.患者的其他眼部并发症还包括脉络膜新生血管(CNV)和闭角型青光眼(ACG).BEST1基因检查显示5例患者为复合杂合突变,1例为纯合突变,另4例仅检出1个杂合突变.结论 在多种视网膜影像学检查的结果中ARB均有较为特异性的特征,结合临床资料可有助ARB的诊断.ARB的并发症诸如CNV及ACG可能潜在威胁患者的视功能,应予以关注.

abstractsObjective To study the clinical and imaging features of autosomal recessive bestrophinopathy (ARB).Methods Retrospective study.The clinical and imaging data of 14 participants were analyzed in using autofluorescence (AF),fluorescein angiography (FA) and spectral-domain optical coherence tomography (SD-OCT).Ten patients were screened for mutations in BEST1 gene.Results Retinopathy of ARB were shown as bilaterally and circularly distributed yellow subretinal deposits in the mid-peripheral and posterior retina,which was observed more clearly by AF and FA.The abnormalities were observed as hyperreflection between the sub-retinal pigment epithelium space as well as the subretinal space by SD-OCT imaging.All of the patients showed serous retinal detachment,and 4 of them were found to have intraretinal schisis.Other ocular complications include choroidal neovascularization (CNV) and angle closure glaucoma (ACG) were also found in the patients.Genetic examinations showed that the mutations are compound heterozygous in five patients,homozygous in one patient and heterozygous in only one of the rest 4 patients.Conclusions The combination of clinical and retinal imaging data may facilitate the diagnosis of ARB.Physicians should be cautious of the vision-threatening complications of the disease.