伴有低磷酸酯酶症的非典型视网膜色素变性
Atypical retinitis pigmentosa with hypophosphatasia.
作者信息
Roxburgh S T
出版信息
Trans Ophthalmol Soc U K (1962). 1983;103 ( Pt 5):513-6.
PMID:6591589
Abstract
Hypophosphatasia is a rare inborn error of metabolism. Ocular signs of hypophosphatasia previously described are blue sclera, band keratopathy, conjunctival calcification, cataract, optic atrophy and the complications of craniostenosis. This paper reports the association of a pigmentary dystrophy similar to rod/cone dystrophy with hypophosphatasia.
摘要
低磷性骨软化症是一种罕见的先天性代谢紊乱疾病。先前描述的低磷性骨软化症的眼部体征包括蓝色巩膜、带状角膜病变、结膜钙化、白内障、视神经萎缩以及颅骨狭窄的并发症。本文报告了一种类似于视杆/视锥营养不良的色素性营养不良与低磷性骨软化症的关联。
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