Fish Eye Disease is associated with a partial deficiency in LCAT (lecithin-cholesterol acyltransferase) activity which results in a dyslipoproteinemia.

Fish Eye Disease is associated with:

(1) partial deficiency in alpha-LCAT activity (acts on HDL)

(2) normal beta-LCAT activity (acts on VLDL and LDL)

In classical LCAT deficiency there is an absence of both activities. The molecular pathology is outlined in Kuivenhoven et al.


A key clinical finding is bilateral corneal opacities. This has been compared to the appearance of an eye from a boiled fish. Vision may be normal or there may be impaired night vision. Blurred vision may be present in more severe cases.


Clinically there is:

(1) no increase in premature coronary artery disease

(2) no increase in renal failure

(3) no anemia


Laboratory findings:

(1) persistent hypoalphalipoproteinemia

(2) low serum HDL-cholesterol concentrations

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