一名患有I型GM1神经节苷脂贮积症的患者出现樱桃红斑、视神经萎缩和角膜混浊。
Cherry-red spot, optic atrophy and corneal cloudings in a patient suffering from GM1 gangliosidosis type I.
作者信息
Sorcinelli R, Sitzia A, Loi M
机构信息
Eye Clinic, University of Cagliari, Italy.
出版信息
Metab Pediatr Syst Ophthalmol (1985). 1987;10(3):62-3.
PMID:3123871
Abstract
We report a case of GMI gangliosidosis type I with cherry-red spot, optic atrophy, and corneal cloudings. The diagnosis was confirmed by the deficiency of beta-galactosidase enzyme in leucocytes and in urine.
摘要
我们报告一例患有樱桃红斑、视神经萎缩和角膜混浊的I型GM1神经节苷脂沉积症病例。通过白细胞和尿液中β-半乳糖苷酶的缺乏确诊。
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