Flaherty Maree, Geering Katie, Crofts Stephanie, Grigg John
a Department of Ophthalmology , The Children's Hospital at Westmead , Sydney , New South Wales , Australia.
b Discipline of Ophthalmology, Save Sight Institute, Sydney Medical School , The University of Sydney , Sydney , New South Wales , Australia.
Ophthalmic Genet. 2017 Jul-Aug;38(4):376-379. doi: 10.1080/13816810.2016.1214973. Epub 2016 Sep 20.
Sly syndrome (Mucopolysaccharidosis Type VII) is an autosomal recessive metabolic storage disorder due to mutations in the GUSB gene encoding the enzyme beta-glucuronidase. Deficiency of this lysosomal enzyme impairs the body's ability to break down the glycosaminoglycans - dermatan, heparan and chondroitin sulphate. Coarse facial features and macrocephaly are typically seen along with bony and skeletal abnormalities, including joint contractures and short stature. Widespread involvement occurs in many other tissues including cardiopulmonary, gastrointestinal, and neurological systems. In view of the rarity of Sly syndrome the ophthalmic features have not been well described.
Case report of a 16-year-old boy with Sly syndrome with serial OCT, ocular ultrasound, and electroretinogram (ERG).
Corneal clouding was present but there was no evidence of glaucoma or optic neuropathy. Despite no clinical evidence of retinopathy, electrophysiology showed reduced photopic and scotopic responses, particularly involving the b-wave which appears progressive. OCT showed normal foveal architecture and normal retinal nerve fiber thickness.
Corneal clouding was noted in this patient and there is no evidence of glaucoma or optic neuropathy. Although retinopathy has not been previously described in Sly syndrome, the ERG changes in this patient suggest that retinopathy may be a feature of MPS VII.
斯利综合征（黏多糖贮积症VII型）是一种常染色体隐性代谢性贮积病，由编码β-葡萄糖醛酸酶的GUSB基因突变所致。这种溶酶体酶的缺乏损害了身体分解糖胺聚糖（硫酸皮肤素、硫酸乙酰肝素和硫酸软骨素）的能力。典型表现为面部特征粗糙、巨头畸形，同时伴有骨骼异常，包括关节挛缩和身材矮小。许多其他组织也会广泛受累，包括心肺、胃肠道和神经系统。鉴于斯利综合征较为罕见，其眼部特征尚未得到充分描述。
对一名患有斯利综合征的16岁男孩进行了系列光学相干断层扫描（OCT）、眼部超声和视网膜电图（ERG）检查的病例报告。
存在角膜混浊，但无青光眼或视神经病变的证据。尽管没有视网膜病变的临床证据，但电生理检查显示明视觉和暗视觉反应降低，尤其是b波，且似乎呈进行性变化。OCT显示黄斑结构正常，视网膜神经纤维层厚度正常。
该患者存在角膜混浊，无青光眼或视神经病变的证据。虽然此前斯利综合征中未描述过视网膜病变，但该患者的ERG变化提示视网膜病变可能是黏多糖贮积症VII型的一个特征。
