Albinism Associated With Torsional Nystagmus Masquerading as Spasmus Nutans.
Albinism Associated With Torsional Nystagmus Masquerading as Spasmus Nutans.
复制标题
白化病与伪装成痉挛性眼球震颤的扭转性眼球震颤有关。
DOI：
10.1097/wno.0000000000001417
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发表时间：
2023
期刊：
影响因子：
--
通讯作者：
Kuht HJ
中科院分区：
文献类型：
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作者：
Kuht HJ
眼皮肤白化病（OCA）是一种遗传异质性疾病，由黑色素生物合成途径中断引起，影响全球约1/20，000的个体（1）。OCA具有常染色体隐性遗传，其特征在于头发、皮肤和眼睛的色素沉着减少。根据基因突变，非综合征型OCA可分为7种主要类型（OCA 1 -7），OCA的眼部特征表现出显著的表型变异性，包括虹膜透照缺陷（TID）、眼底色素减退、中心凹发育不全和视神经交叉缺陷（1，2）。眼球震颤通常与OCA有关;然而，它通常表现为共轭的、水平的、随慢相速度增加的急动波形。我们描述了一种罕见的间歇性扭转性眼球震颤的基因证实的OCA个人，最初伪装成痉挛垂。
Oculocutaneous albinism (OCA) is a genetically heterogenous disorder caused by disruption to the melanin biosynthesis pathway, affecting approximately 1 in 20,000 individuals worldwide (1). OCA has an autosomal recessive inheritance characterized by reduced pigmentation of the hair, skin, and eyes. Nonsyndromic OCA can be subdivided into 7 main types (OCA1-7), based on the genetic mutation.Ocular characteristics of OCA demonstrate significant phenotypic variability and can include iris transillumination defects (TIDs), fundus hypopigmentation, foveal hypoplasia, and optic nerve decussation defects (1, 2). Nystagmus is often associated with OCA; however, it typically demonstrates a conjugate, horizontal, jerk waveform with increasing slow-phase velocities. We describe a rare presentation of intermittent torsional nystagmus in an individual with genetically confirmed OCA, initially masquerading as spasmus nutans.