PNPLA6基因变异导致的Oliver-McFarlane综合征1例  

A case of Oliver-McFarlane syndrome caused by PNPLA6 gene mutation

作　　者：石婕 张昕 许可 谢玥 张晓慧 李杨 Shi Jie;Zhang Xin;Xu Ke;Xie Yue;Zhang Xiaohui;Li Yang(Beijing Tongren Eye Center,Beijing Tongren Hospital,Capital Medical University,Beijing Institute of Ophthalmology,Beijing Key Laboratory of Ophthalmology&Visual Sciences,Beijing 100730,China)

机构地区：[1]首都医科大学附属北京同仁医院北京同仁眼科中心,北京市眼科研究所,北京市眼科学与视觉科学重点实验室,北京100730

出　　处：《中华眼科杂志》2023年第6期484-487,共4页Chinese Journal of Ophthalmology

摘　　要：Oliver-McFarlane综合征是一种罕见的遗传病,以长睫毛、脉络膜视网膜萎缩和多种垂体激素缺乏为特征性改变。本例患者女性,29岁,自幼夜盲、视力低下、长睫毛,经基因测序检出PNPLA6基因复合杂合变异,综合临床表现诊断为Oliver-McFarlane综合征。Oliver-McFarlane syndrome is a rare genetic disorder characterized by long eyelashes,choroidoretinal atrophy,and multiple pituitary hormone deficiencies.The patient in this case is a 29-year-old female who has suffered from night blindness,low vision,and long eyelashes since childhood.Through genetic sequencing,she was diagnosed with compound heterozygous variaton in the PNPLA6 gene,indicating Oliver-McFarlane syndrome based on her comprehensive clinical presentation.

关 键 词：发育障碍 色素性视网膜炎 酰基转移酶类 磷脂酶类 遗传变异 

分 类 号：R774.11[医药卫生—眼科]