Dominant cystoid macular dystrophy associated with mutations in the RP1L1 gene

• 作者: Na Yang Tian-Hao Xie Xiao-Nan Shi Yan Fu Yue-Ling Zhang Zhao-Hui Gu
• 来源期刊: 国际眼科杂志:英文版
• 学科: 数学
• 关键词: essentially SPACES DYSTROPHY
• 年，卷（期）: gjykzzywb_2019,（12）
• 页码范围: 1982-1986
• 页数: 5页
• 分类号: O17

摘要

Dear Editor,We describe in detail a case of dominant cystoid macular dystrophy(DCMD)patient carrying a novel heterozygous RP1 L1 mutation.DCMD is a unique form of macular dystrophy;the appearance of cystic spaces in the macula indicates its onset,while the rest of the retina is essentially normal.