Which physical findings are characteristic of partial lecithin-cholesterol acyltransferase (LCAT) deficiency (fish eye disease)?

Updated: Oct 16, 2019
  • Author: Catherine Anastasopoulou, MD, PhD, FACE; Chief Editor: George T Griffing, MD  more...
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Answer

Answer

Clinical manifestations of fish eye disease include the following:

  • Corneal opacities - The appearance of the corneas is similar to the eyes of a boiled fish; the degree of corneal opacification is more severe in persons with fish eye disease, resulting in visual impairment at an early age

  • Signs of atherosclerosis (in rare cases)

  • Hepatomegaly, splenomegaly, and lymphadenopathy - Generally, these are not present, despite the accumulation of lipid-laden foam cells


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