Hereditary ocular dysproteinhydria of the aqueous humour with crystalline deposits.
We describe a family with coloured crystalline deposits on the corneal endothelium and on the lens surface. A protein with a molecular weight of about 110,000 and an isoelectric point of 7-8 could be demonstrated in the aqueous humour, which was not found in the controls or in the serum of the family members. The pedigree is suggestive of autosomal dominant inheritance. To our knowledge this is the first report of this entity.
D000328:Adult; D000368:Aged; D000596:Amino Acids / Q000032:analysis; D001082:Aqueous Humor / Q000378:metabolism*; D003316:Corneal Diseases / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D005136:Eye Proteins / Q000378:metabolism*; D005260:Female; D006801:Humans; D007905:Lens Diseases / Q000235:genetics*; D008297:Male; D010375:Pedigree
D000596:Amino Acids; D005136:Eye Proteins