FISH-EYE DISEASE - NEW FAMILIAL CONDITION WITH MASSIVE CORNEAL OPACITIES AND DYSLIPOPROTEINEMIA

  • 1 January 1979
    • journal article
    • research article
    • Vol. 2  (8149) , 921-924
Abstract
A man and his 3 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 2 living daughters had the same dyslipoproteinemia, characterized by normal serum cholesterol but raised serum triglycerides, raised very-low-density lipoproteins and strikingly high levels of low-density lipoprotein (LDL) triglycerides. LDL contained normal sized and 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, which 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.