Phenotypic expression variability in Best Disease: a purpose of a series of cases

Abstract The objective of the following work is to document the phenotypic expression variability in Best Disease in first-degree relatives. The information was collected by assessing medical notes, interviewing the patient and obtaining photographic record of the diagnostic methods to which the patient was submitted. Data was analyzed along with a thorough review of the literature. A series of cases were reported in which the patient presenting the phenotypic characteristics of the disease has first degree relatives without ophthalmic findings during examination, but present an abnormal pattern on the electro-oculogram (EOG). Our article reveals the importance of electrophysiological exams in the diagnosis of Best vitelliform macular dystrophy, including the prevention of its clinical manifestation (autosomal dominant), providing concrete subsidies for genetic counseling.

摘要 本研究旨在记录一级亲属中Best病（Best Disease）的表型表达异质性。研究通过审阅病历资料、对患者进行访谈以及获取患者所接受的各项诊断检查的影像记录来收集相关信息，并结合全面的文献复习对数据进行分析。本研究报道了一系列病例：表现出该疾病表型特征的患者，其一级亲属在眼科检查中未发现任何异常，但眼电图（electro-oculogram, EOG）检测结果呈现异常模式。本文阐明了电生理检查在Best黄斑卵黄样营养不良（Best vitelliform macular dystrophy）诊断中的重要价值，包括对该常染色体显性遗传病的临床表现进行防控，同时为遗传咨询提供了具体依据。