Ocular manifestations of Gaucher's disease.
A 27-year-old woman not only had the usual clinical and laboratory features of the adult form of Gaucher's disease but also had typical pingueculae and a peculiar lesion with a pigmented temporal edge in the fundus of her left eye. Bone-marrow aspiration demonstrated infiltration by Gaucher's cells and a biopsy of the conjuctival masses disclosed areas of infiltration by Gaucher's cell beneath normal epithelium.
D000328:Adult; D003228:Conjunctiva; D005132:Eye Manifestations; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis; D006801:Humans; D010375:Pedigree