fish eye disease
Findings
No curated finding names fish eye disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.
Definition from the Mondo Disease Ontology (MONDO:0007620), read 2026-09-29. CC BY 4.0.
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Corneal opacityHPOHP:0007957
- Very frequent (80% to 99% of cases)
- Decreased circulating HDL-C concentrationHPOHP:0003233
- Very frequent (80% to 99% of cases)
- Angina pectorisHPOHP:0001681
- Occasional (5% to 29% of cases)
- AtherosclerosisHPOHP:0002621
- Occasional (5% to 29% of cases)
- HepatomegalyHPOHP:0002240
- Occasional (5% to 29% of cases)
- LymphadenopathyHPOHP:0002716
- Occasional (5% to 29% of cases)
- SplenomegalyHPOHP:0001744
- Occasional (5% to 29% of cases)
- Visual impairmentHPOHP:0000505
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LCATHGNC:6522
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: fish eye disease
- Also called
- FEDpartial LCAT deficiency