生物素酶缺乏症、双侧视神经萎缩和视野缺损。
Biotinidase Deficiency, Bilateral Optic Atrophy, and a Visual Field Defect.
作者信息
Chamney Sarah, Jothi Vasuki Gnana, McLoone Eibhlin
机构信息
Department of Ophthalmology, Royal Victoria Hospital Belfast, Northern Ireland United Kingdom.
出版信息
Neuroophthalmology. 2013 Nov 19;37(6):251-253. doi: 10.3109/01658107.2013.824004. eCollection 2013.
Abstract
We present an update on the ophthalmic status of a female patient with biotinidase deficiency who has attended our clinic for over 30 years. She is the only reported case of juvenile-onset glaucoma associated with biotinidase deficiency. Her intraocular pressure, optic nerve appearance, and visual field defect have, however, remained stable throughout her follow-up. We feel that this patient's visual field defect is a result of optic atrophy due to biotinidase deficiency in early life rather than glaucomatous damage.
摘要
我们报告了一名患有生物素酶缺乏症的女性患者的眼科最新情况，该患者在我们诊所就诊已超过30年。她是唯一报告的与生物素酶缺乏症相关的青少年型青光眼病例。然而，在她的整个随访过程中，眼压、视神经外观和视野缺损一直保持稳定。我们认为该患者的视野缺损是由于早年生物素酶缺乏导致的视神经萎缩，而非青光眼性损害。
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