Richard G, Kroll P
Ophthalmologica. 1983;186(4):211-8. doi: 10.1159/000309288.
Cystinosis is a rare autosomal recessive hereditary enzymopathy which leads to accumulation of cystine in the reticuloendothelial system of the liver, spleen, lymph nodes, etc. The pathognomonic alterations of the cornea are characterized by multiple crystalline deposits, chiefly in the limbus area and in the anterior corneal stroma. The retinal changes are seldom described in the literature; they are characterized by a fine-grained pigment shift which intensifies from the macula toward the preequator area and which gives the fundus a 'salt and pepper' appearance.
胱氨酸病是一种罕见的常染色体隐性遗传性酶病,可导致胱氨酸在肝脏、脾脏、淋巴结等的网状内皮系统中蓄积。角膜的特征性改变表现为多个结晶状沉积物,主要位于角膜缘区和角膜前基质。视网膜改变在文献中很少被描述;其特征为细微的色素改变,从黄斑区向赤道前区域加重,使眼底呈现“椒盐”外观。