Fish-eye disease. Altered HDL cholesterol metabolism and corneal involvement: A case report

Elsevier

Available online 15 October 2025, 501638

Endocrinología, Diabetes y Nutrición (English ed.)Author links open overlay panel, , , , Section snippetsDiscussion

LCAT deficiency may manifest with an altered lipid profile (hypertriglyceridemia and very low HDL-C), corneal opacities, hematologic abnormalities (normochromic anemia of variable severity), and chronic kidney disease.4, 5 FED is a genetic form of LCAT deficiency characterized clinically by corneal opacities and biochemically by markedly reduced HDL-C and partial LCAT deficiency.

In our case, the patient had corneal changes (a clear marker of LCAT deficiency) since childhood, but severe

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