Zhong J W, Ye H W, Xu K, Xie Y, Zhang X H, Li Y
Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Institute of Ophthalmology, Beijing Key Laboratory of Ophthalmology & Visual Sciences, Beijing 100730, China.
Zhonghua Yan Ke Za Zhi. 2022 Oct 11;58(10):788-792. doi: 10.3760/cma.j.cn112142-20211206-00580.
A 5-year-old female patient, presented with"night blindness and poor hearing for 1 year"whose first diagnosis was Usher syndrome due to retinitis pigmentosa accompanied by sensorineural deafness. Compound heterozygous variants (c.5G>A, p.W2*/c.3022C>T, p.P1008S) of PEX1, the causative gene for Zellweger spectrum disorder was confirmed by targeted exome sequencing analysis. Permanent tooth enamel dysplasia, nail leukoplakia, and biochemical abnormalities of peroxisome which is consistent with mild Zellweger spectrum disorder were found when she followed up.
一名5岁女性患者，因“夜盲和听力减退1年”就诊，最初诊断为伴有感音神经性耳聋的色素性视网膜炎导致的Usher综合征。通过靶向外显子组测序分析确诊为佩梅病谱障碍致病基因PEX1的复合杂合变异（c.5G>A，p.W2*/c.3022C>T，p.P1008S）。随访时发现恒牙釉质发育不全、指甲白斑以及与轻度佩梅病谱障碍一致的过氧化物酶体生化异常。
