常染色体隐性遗传性Best病1例  

A case report of autosomal recessive bestrophinopathy

作　　者：林兰若 池滢[1] 张婧[1] 杨柳[1] Lanruo Lin;Ying Chi;Jing Zhang;Liu Yang(Department of Ophthalmology,Peking University First Hospital,Beijing 100034,China)

机构地区：[1]北京大学第一医院眼科,北京100034

出　　处：《中华眼科杂志》2023年第7期566-569,共4页Chinese Journal of Ophthalmology

摘　　要：患者男性,40岁。因视物易疲劳3个月就诊于眼科。2个月前患者曾被误诊为"双眼后葡萄膜炎",糖皮质激素治疗无效后排除该诊断。此次就诊,眼底检查可见双眼黄斑中心凹下方黄白色物质渗出。结合眼科检查结果及患者与其儿子基因检测结果,患者诊断为常染色体隐性遗传性Best病。The patient is a 40-year-old male who presented to the ophthalmology clinic due to easy visual fatigue for the past 3 months.Two months ago,the patient was misdiagnosed with"bilateral posterior uveitis",but the diagnosis was ruled out after ineffective treatment with corticosteroids.During the current visit,fundus examination revealed yellow-white material exudation below the macular center in both eyes.Considering the results of the ophthalmic examination and the genetic testing of the patient and his son,the patient was diagnosed with autosomal recessive bestrophinopathy.

关 键 词：卵黄状黄斑营养不良 Bestrophin蛋白 BEST1基因 

分 类 号：R774.5[医药卫生—眼科]