Lin L R, Chi Y, Zhang J, Yang L
Department of Ophthalmology, Peking University First Hospital, Beijing 100034, China.
Zhonghua Yan Ke Za Zhi. 2023 Jul 11;59(7):566-569. doi: 10.3760/cma.j.cn112142-20221105-00571.
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.
该患者为40岁男性，因过去3个月容易出现视觉疲劳而就诊于眼科门诊。两个月前，该患者被误诊为“双侧后葡萄膜炎”，但在使用皮质类固醇治疗无效后排除了该诊断。在本次就诊期间，眼底检查发现双眼黄斑中心下方有黄白色物质渗出。结合眼科检查结果以及患者及其儿子的基因检测结果，该患者被诊断为常染色体隐性遗传性Bestrophin病。
