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.
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。.