神经节苷脂贮积症的眼部表现

Ocular Manifestations of Patients with Gangliosidosis

本文报道了４例经酶活性测定证实的小儿神经节苷脂贮积症（ＧＬＳ）。眼底樱桃红斑、黄斑变性及视神经萎缩为其主要眼部改变。从酶缺陷引起的代谢障碍及眼部组织光镜、电镜观察结果讨论了眼部病变的病理学基础。

This paper describes the ophthalmological findings in 4 patients with gangliosidosis (GLS).The diagnosis was verified by assaying hexosaminidase A and β-galactosidase activi ties with marked deficiency.The presence of a cherry-red spot at the macular region,macu lar degeneration and atrophy of the optic disc were the main ocular manifestations.The ocu lar pathological changes seen under light and electron microscopy and the inherited error of metabolism of ganglioside are discussed.