A-beta-lipoproteinaemia. Ocular involvement in a Danish case.
A-beta-lipoproteinaemia in a Danish woman is reported. The ocular involvement comprised pigmentary retinopathy, anisocoria and reduced corneal sensibility. Serum concentrations of vitamin A and retinol-binding protein (RBP) were low, but were normalized after vitamin treatment. Serum concentration of carotene was low, and not altered by treatment. The retinopathy progressed over a 2 1/2 year period in spite of controlled serum vitamin A and RBP concentrations. The possible role of vitamin A in the development of retinopathy is discussed.
D000012:Abetalipoproteinemia / Q000150:complications*; D000328:Adult; D003316:Corneal Diseases / Q000150:complications; D005260:Female; D006801:Humans; D011247:Pregnancy; D011680:Pupil; D012164:Retinal Diseases / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D012607:Scotoma / Q000150:complications; D014801:Vitamin A / Q000627:therapeutic use; D014802:Vitamin A Deficiency / Q000150:complications*; D014813:Vitamin K Deficiency / Q000150:complications
D014801:Vitamin A