[一例由PNPLA6基因突变引起的奥利弗-麦克法兰综合征病例]
[A case of Oliver-McFarlane syndrome caused by PNPLA6 gene mutation].
作者信息
Shi J, Zhang X, Xu K, Xie Y, Zhang X H, Li Y
机构信息
Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Institute of Ophthalmology, Beijing Key Laboratory of Ophthalmology & Visual Sciences, Beijing 100730, China.
出版信息
Zhonghua Yan Ke Za Zhi. 2023 Jun 11;59(6):484-487. doi: 10.3760/cma.j.cn112142-20220627-00316.
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.
奥利弗-麦克法兰综合征是一种罕见的遗传性疾病，其特征为睫毛过长、脉络膜视网膜萎缩和多种垂体激素缺乏。该病例中的患者是一名29岁女性，自幼患有夜盲、视力低下和睫毛过长。通过基因测序，她被诊断为PNPLA6基因复合杂合变异，根据其综合临床表现表明为奥利弗-麦克法兰综合征。
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