Collins M L, Traboulsi E I, Maumenee I H
Johns Hopkins Center for Hereditary Eye Diseases, Johns Hopkins Hospital, Baltimore, MD.
Ophthalmology. 1990 Nov;97(11):1445-9. doi: 10.1016/s0161-6420(90)32400-4.
The ocular findings in 108 patients representative of all types of mucopolysaccharidoses (MPS) were reviewed. Attention was focused on optic nerve head appearance. Optic nerve head swelling was observed in 8/14 eyes of MPS 1-Hurler (MPS 1-H); 9/21 MPS 1-Hurler-Scheie (MPS 1-H-S); 0/4 MPS I-S; 13/66 MPS II; 1/22 MPS III; 0/58 MPS IV; 5/12 MPS VI; and 2/2 MPS VII eyes. In three patients, optic nerve head swelling was present in one eye and optic atrophy in the fellow eye; in four patients, optic atrophy followed disc elevation; three patients presented with bilateral optic atrophy. It was concluded that optic nerve head swelling precedes the development of optic atrophy in the systemic MPS.
回顾了108例代表各种类型黏多糖贮积症（MPS）患者的眼部检查结果。重点关注视神经乳头外观。在黏多糖贮积症I型-Hurler综合征（MPS 1-H）的14只眼中，有8只观察到视神经乳头肿胀；黏多糖贮积症I型-Hurler-Scheie综合征（MPS 1-H-S）的21只眼中，有9只；黏多糖贮积症I-S型的4只眼中，0只；黏多糖贮积症II型的66只眼中，13只；黏多糖贮积症III型的22只眼中，1只；黏多糖贮积症IV型的58只眼中，0只；黏多糖贮积症VI型的12只眼中，5只；黏多糖贮积症VII型的2只眼中，2只。在3例患者中，一只眼出现视神经乳头肿胀，另一只眼出现视神经萎缩；在4例患者中，视神经萎缩发生在视盘隆起之后；3例患者表现为双侧视神经萎缩。得出的结论是，在全身性黏多糖贮积症中，视神经乳头肿胀先于视神经萎缩的发生。
