RU视网膜色素变性(RP)是常见的遗传性眼底疾病,典型RP的临床表现为夜盲、视盘蜡黄、骨样细胞色素沉着。现阶段随着RP基因探索的兴起及眼底影像技术的发展,相关研究发现许多RP患者并不完全表现为典型的症状与体征,不同类型的RP患者所合并非典型临床表现及影像学表现也不尽相同,部分患者还可表现为黄斑功能异常、视网膜异常反光等。现对RP的相关临床表现差异性及影像学特征作一综述。
Retinitis pigmentosa (RP)is a shared hereditary retinal disease,usually presents with night blindness,optic sallow and pigmentation.With the development of RP gene exploration and funduscopic imagines technology,research-ers found that many patients do not entirely show typical symptoms.Some patients also present with untypical visual ab-normals and retinal abnormalities such as macular dysfunction or anomalous retinal reflections.Modern fundus imaging techniques including visual field examination,OCT,elecreoretinogram,could provide detailed information,guide ap-propriate treatment and predict prognosis.Here we review the clinical manifestation of RP and related auxiliary examina-tion performance.