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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.
Features include: Opacification of the corneal stroma, Hypertriglyceridemia, Low HDL ("good") cholesterol (decreased hdl cholesterol concentration), and Increased LDL cholesterol concentration and 1 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 3 | Low HDL ("good") cholesterol (decreased hdl cholesterol concentration), Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration |
LCAT encodes lecithin-cholesterol acyltransferase (440 aa). Central enzyme in the extracellular metabolism of plasma lipoproteins. Highest expression in Liver (117.3 TPM) and Brain Cerebellum (88.0 TPM).
Fish eye disease is associated with mutations in the LCAT gene on chromosome 16.
The LCAT protein participates in PLA2G15 hydrolyses LPC to GPCho and LCFA(-) and cholesterol + phosphatidylcholine (lecithin) = cholesterol ester + 2-lysophosphatidylcholine (lysolecithin) pathways.
LCAT is classified as a druggable target (Druggable Genome, Enzyme, and Transporter categories) with score 20.9.
Genetic testing for LCAT is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for fish eye disease has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
29 publications have been identified in PubMed for fish eye disease. Research spans Case Report / Case Series (56%), Gene Therapy / Novel Therapeutics (15%), and Clinical Trial Publication (11%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 15 | 56% |
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 6:26 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Lab test results | 2 | Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration |
Eyes | 1 | Opacification of the corneal stroma |
New treatment approaches |
4 |
15% |
Clinical study results | 3 | 11% |
Laboratory research | 3 | 11% |
Testing and diagnosis research | 1 | 4% |
Research summaries | 1 | 4% |
Rodriguez Mori JE (2026). [PMID: 41720735](https://pubmed.ncbi.nlm.nih.gov/41720735/). *Nefrologia*. [Diagnostic / Biomarker]
Sitto MM (2026). [PMID: 41635805](https://pubmed.ncbi.nlm.nih.gov/41635805/). *Case reports in ophthalmology*. [Case Report / Case Series]
Matsuo M (2026). [PMID: 40930774](https://pubmed.ncbi.nlm.nih.gov/40930774/). *Journal of atherosclerosis and thrombosis*. [Case Report / Case Series]
Mendes J (2026). [PMID: 41551200](https://pubmed.ncbi.nlm.nih.gov/41551200/). *Case reports in ophthalmology*. [Basic Science / Preclinical]
Zhu Y (2026). [PMID: 42080096](https://pubmed.ncbi.nlm.nih.gov/42080096/). *Front Genet*. [Case Report / Case Series]
Sato T (2026). [PMID: 42178263](https://pubmed.ncbi.nlm.nih.gov/42178263/). *Intern Med*. [Case Report / Case Series]
Yamazaki T (2026). [PMID: 42159827](https://pubmed.ncbi.nlm.nih.gov/42159827/). *CEN Case Rep*. [Case Report / Case Series]
Tamaki A (2025). [PMID: 39662947](https://pubmed.ncbi.nlm.nih.gov/39662947/). *Journal of atherosclerosis and thrombosis*. [Case Report / Case Series]
Kalra DK (2025). [PMID: 40555623](https://pubmed.ncbi.nlm.nih.gov/40555623/). *J Clin Lipidol*. [Review / Meta-Analysis]
Ono T (2025). [PMID: 41542003](https://pubmed.ncbi.nlm.nih.gov/41542003/). *Cureus*. [Clinical Trial Publication]
AI-curated news mentioning fish eye disease
Updated Jul 20, 2026
Stargardt Disease. American Academy of Ophthalmology. Macula. American Academy of Ophthalmology. Vision Loss, Central. MedlinePlus. Stargardt macular degeneration. National Cancer Institute. Choroid. MedlinePlus. Choroideremia. National Organization of Rare Disorders. Choroideremia. U.S. Food & Drug Administration. FDA approves novel gene therapy to treat patients with a rare form of inherited ... Stargardt Disease. American Academy of Ophthalmology. Macula. American Academy of Ophthalmology. Vision Loss, Central. MedlinePlus. Stargardt macular degeneration. National Cancer Institute. Choroid. MedlinePlus. Choroideremia. National Organization of Rare Disorders. Choroideremia. U.S. Food & Drug Administration. FDA approves novel gene therapy to treat patients with a rare form of inherited vision loss. This gene is associated with several IRDs, including retinitis pigmentosa. Other therapies in development include medications that prevent the death of cells in the eyes and prosthetics that are implanted into the eye to restore vision. Sources: PreventBlindness.org. Eye Diseases & Con... + 13 · PreventBlindness.org. Eye Diseases & Conditions: Inherited Retinal Diseases. Why family medical history matters to the health of your eyes.How your genetics can affect your vision ... Get a look at the healthcare providers you may work with if you are living with an inherited retinal disease (IRD).The specialists and therapies that treat IRDs Keep in mind that this is a simplified explanation of this condition—there are more than 60 different genes that can be involved in the development of RP, there are numerous subtypes of RP, the disease can follow different patterns, and it can occur as a result of multiple other genetic disorders. It’s estimated that RP affects one out of every 3,000 or 4,000 people. This inherited retinal disease is the most common form of juvenile macular degeneration and symptoms typically begin in late childhood or young adulthood.