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蓝锥细胞增强症
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF OCULAR FUNDUS DISEASES
- Issue:
- 3
- DOI:
- 10.3760/j.issn:1005-1015.2007.03.028
- Key Word:
- 遗传性疾病,先天性;基因,隐性;突变
Abstract： 蓝锥细胞增强症(ESCS)是一种少见的常染色体隐性遗传性视网膜疾病,通常与NR2E3突变相关常染色体隐性遗传有关.成年人主要表现为夜盲,眼底检查可以发现黄斑拱环周围视网膜深层团状色素沉着,不同程度的视网膜劈裂;儿童主要表现为夜盲、调节性内斜视以及视网膜损害.特征为视杆细胞功能缺失、S视锥细胞数量增多和功能异常增强、夜盲、视网膜电图明视反应以S视锥细胞介导的大振幅波为主.
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