Netzhautveränderungen bei Zystinose

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Abstract
Cystinosis is a rare autosomal recessive hereditary enzymopathy [in humans] which leads to accumulation of cystine in the RES 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.

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