Hypoalphalipoproteinemia resembling fish eye disease.
A 16-year-old boy presented with bilateral arcus cornealis and markedly decreased plasma high density lipoprotein cholesterol. The plasma lipoprotein abnormalities, as well as decreased mass and activity of lecithin:cholesterol acyltransferase (LCAT), were similar to those described in patients with fish eye disease. Increased number of target cells and decreased osmotic fragility of the proband's erythrocytes were noted. The proband's father and one of his brothers showed intermediate plasma lipoprotein and LCAT alterations. The father's erythrocytes also showed abnormal osmotic fragility. The mother of the propositus had normal plasma lipoproteins and erythrocyte osmotic fragility, but her LCAT activity was also low. Many of these features suggest a disorder similar to fish eye disease which is clinically and biochemically distinct from other hypoalphalipoproteinemias.
D000293:Adolescent; D000328:Adult; D003318:Corneal Opacity / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007009:Hypolipoproteinemias / Q000097:blood* / Q000175:diagnosis / Q000235:genetics; D008075:Lipoproteins, HDL / Q000097:blood*; D008077:Lipoproteins, LDL / Q000097:blood; D008297:Male; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000097:blood; D013577:Syndrome
D008075:Lipoproteins, HDL; D008077:Lipoproteins, LDL; D007862:Phosphatidylcholine-Sterol O-Acyltransferase