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Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.

"},"coverage":{"countRecords":0,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":13,"sourceGroups":{"omim":5,"orphanet":8,"published":0}},"features":[{"hpoId":"HP:0001681","label":"Angina pectoris","primary":false},{"hpoId":"HP:0002621","label":"Atherosclerosis","primary":false},{"hpoId":"HP:0007957","label":"Corneal opacity","primary":false},{"hpoId":"HP:0003233","label":"Decreased circulating HDL-C concentration","primary":false},{"hpoId":"HP:0003141","label":"Elevated circulating LDL-C concentration","primary":false},{"hpoId":"HP:0003362","label":"Elevated circulating VLDL-C concentration","primary":false},{"hpoId":"HP:0002240","label":"Hepatomegaly","primary":false},{"hpoId":"HP:0002155","label":"Hypertriglyceridemia","primary":false},{"hpoId":"HP:0002716","label":"Lymphadenopathy","primary":false},{"hpoId":"HP:0007759","label":"Opacification of the corneal stroma","primary":false},{"hpoId":"HP:0001744","label":"Splenomegaly","primary":false},{"hpoId":"HP:0000505","label":"Visual impairment","primary":false}],"ledeHtml":"Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy. 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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Fish-eye disease is caused by mutations in the LCAT gene. This gene provides instructions for making an enzyme called lecithin-cholesterol acyltransferase (LCAT).

The LCAT enzyme plays a role in removing cholesterol from the blood and tissues by helping it attach to molecules called lipoproteins, which carry it to the liver. Once in the liver, the cholesterol is redistributed to other tissues or removed from the body. The enzyme has two major functions, called alpha- and beta-LCAT activity. Alpha-LCAT activity helps attach cholesterol to a lipoprotein called high-density lipoprotein (HDL). Beta-LCAT activity helps attach cholesterol to other lipoproteins called very low-density lipoprotein (VLDL) and low-density lipoprotein (LDL).

LCAT gene mutations that cause fish-eye disease impair alpha-LCAT activity, reducing the enzyme's ability to attach cholesterol to HDL. Impairment of this mechanism for reducing cholesterol in the body leads to cholesterol-containing opacities in the corneas. It is not known why the cholesterol deposits affect only the corneas in this disorder. Mutations that affect both alpha-LCAT activity and beta-LCAT activity lead to a related disorder called complete LCAT deficiency, which involves corneal opacities in combination with features affecting other parts of the body.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Fish-eye disease?"},{"bodyHtml":"

Source: MedlinePlus Genetics

","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"fish-eye-disease","sourceDocuments":[{"name":"Fish-eye disease","reviewed":"2013-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:33.361529+00:00","label":"Causes","pageSha256":"65be4c05899a604b9cf0a8034321f47d51cbd002ed7ed441ae166f15c1da4f57","sourceUrl":"https://medlineplus.gov/genetics/condition/fish-eye-disease/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/fish-eye-disease"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Fish-eye disease"},"schemaVersion":1}