PDF(Pubmed)
Abstract：
Enhanced S-cone syndrome (ESCS) is a rare type of retinal dystrophy disorder that is linked to NR2E3 gene mutation and NRL gene mutations less widely. The disease is characterized by increased S-cones number and marked degeneration in rods and M- and L-cone receptors. The patient suffers from night blindness from an early age. Examination of the fundus of the eye shows nummular pigmented lesions, but they are not specific to ESCS. The diagnosis can be confirmed with electroretinography. We report a case of a four-year-old girl suspected of having ESCS based on her clinical picture, fundus examination, and electroretinography.
摘要：
增强型S-锥综合征（ESCS）是一种罕见的视网膜营养不良疾病，与NR2E3基因突变和NRL基因突变有关。该疾病的特征是S-视锥细胞数量增加，杆和M-和L-视锥受体明显变性。患者从小就患有夜盲症。眼底检查显示有色素斑,但它们并非特定于ESCS。诊断可以通过视网膜电图确认。我们报告了一个4岁女孩的病例，根据她的临床表现，她怀疑患有ESCS，眼底检查,和视网膜电图。
