Cogan D G
Can Med Assoc J. 1966 Nov 19;95(21):1055-65.
The eye provides unique opportunities for the detection, during life, of deposits of storage substances and other characteristic changes resulting from inborn metabolic defects. The cornea shows the macromolecular polysaccharides of Hurler's disease, the cystine crystals in cystinosis, and the copper deposits of Wilson's disease. The sclera shows characteristic pigmentation in alcaptonuria. The iris shows the lack of pigmentation in various types of albinism. The lens is cataractous in galactosemia and dislocated in homocystinuria. The vitreous is opacified in familial amyloidosis. The retina shows different and characteristic deposits with the diseases of Tay-Sachs, Niemann-Pick, metachromatic leukodystrophy, and Farber's lipogranulomatosis. The retinal veins show pronounced tortuosity with Fabry's disease. There is some evidence that optic neuropathy occurs in glucose-6-phosphate dehydrogenase deficiency. Curiously, few abnormalities in the eye have been described in subjects with the glycogen storage diseases.
眼睛为在生命过程中检测储存物质的沉积以及先天性代谢缺陷导致的其他特征性变化提供了独特的机会。角膜显示出黏多糖贮积症Ⅰ型的大分子多糖、胱氨酸病中的胱氨酸晶体以及威尔逊氏病的铜沉积。巩膜在黑尿症中显示出特征性色素沉着。虹膜在各种类型的白化病中显示色素沉着缺失。晶状体在半乳糖血症中呈白内障状，在同型胱氨酸尿症中脱位。玻璃体在家族性淀粉样变性中浑浊。视网膜在泰-萨克斯病、尼曼-皮克病、异染性脑白质营养不良和法伯氏脂肪肉芽肿病中显示出不同的特征性沉积物。视网膜静脉在法布里病中显示出明显的迂曲。有一些证据表明，葡萄糖-6-磷酸脱氢酶缺乏症患者会出现视神经病变。奇怪的是，糖原贮积病患者眼睛中很少有异常情况被描述。
