Fish-eye disease. A new familial condition with massive corneal opacities and dyslipoproteinaemia.
A man and his three daughters had massive corneal opacities called in their home village "fish-eye disease" because of the resemblance of the eyes to those of boiled fish. The two living daughters had the same dyslipoproteinaemia, characterised by normal serum cholesterol but raised serum triglycerides, raised very-low-density lipoproteins, strikingly high levels of low-density lipoprotein (LDL) triglycerides. LDL contained normal sized as well as abnormally large particles and a 90% reduction in the level of high-density lipoprotein (HDL) cholesterol. Lecithin:cholesterol acyltransferase (LCAT) activity and the percentage of plasma cholesterol esters were normal, with excluded LCAT-deficiency. Normal electrophoretic mobility of HDL as well as other lipoprotein findings excluded Tangier disease. The clinical and laboratory abnormalities in fish-eye disease are atherosclerosis at old age, visual impairment, and dense corneal opacification. Fish-eye disease thus differs both clinically and in its lipoprotein abnormalities from LCAT-deficiency and Tangier disease.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002788:Cholesterol Esters / Q000097:blood; D003318:Corneal Opacity / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D006951:Hyperlipoproteinemias / Q000175:diagnosis / Q000235:genetics*; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000175:diagnosis; D008075:Lipoproteins, HDL / Q000172:deficiency; D008077:Lipoproteins, LDL / Q000097:blood*; D008079:Lipoproteins, VLDL / Q000097:blood*; D008297:Male; D008875:Middle Aged; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000097:blood; D013577:Syndrome; D013631:Tangier Disease / Q000175:diagnosis; D014280:Triglycerides / Q000097:blood*
D002788:Cholesterol Esters; D008075:Lipoproteins, HDL; D008077:Lipoproteins, LDL; D008079:Lipoproteins, VLDL; D014280:Triglycerides; D007862:Phosphatidylcholine-Sterol O-Acyltransferase