[Eye changes in Gaucher's disease].
In a patient with Gaucher's disease multiple, chalky-white, randomly distributed, circular spots were observed in the superficial layers of the retina or directly on the vessel walls. There are indications that these changes of the retina, which have also been described by other authors, are characteristic of the juvenile form of Gaucher's disease. By carrying out a long-term study over an 11-year period it was possible to prove that these spots were caused by defective healing of minute hemorrhages which were initially still visible as red and white concentric target lesions in the center of the spot. The macula was not cherry-red in this case.
D000293:Adolescent; D000328:Adult; D002648:Child; D005776:Gaucher Disease / Q000175:diagnosis / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D008297:Male; D012164:Retinal Diseases / Q000175:diagnosis / Q000473:pathology*; D012166:Retinal Hemorrhage / Q000473:pathology*; D013107:Sphingolipids / Q000378:metabolism
D013107:Sphingolipids
Uber Augenveränderungen beim Morbus Gaucher.