ORPHA:79292
Fish-eye disease
Also known as: FED · Partial LCAT deficiency
Publications
387
72.3th percentile
Trials
1
Interventional, condition-specific
Researchers
1,107
Distinct authors in sample
Gene link
LCAT
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
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 deficiency.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007620
- OMIM:136120
- UMLS:C0342895
Additional Mondo synonyms (3)
fed · fish eye disease · partial LCAT deficiency
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — LCAT
- LiteraturePresent
387 matched papers (138 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
1 matched on ClinicalTrials.gov
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (LCAT).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
387
387 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
387 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
138 in the last 10 years · medium confidence · 72.3th percentile (publications denominator)
Phrase hits: 387 · MeSH hits: 0
Who's working on it?
1,107
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Calabresi L16 papers · 2024
Center E. Grossi Paoletti, Department of Pharmacological Sciences, University of Milano, 20133 Milan, Italy.
Papers in Europe PMC - 02Remaley AT12 papers · 2024
From the National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD (R.D.S., A.M.S., L.A.F., M.J.A., A.W., A.T.R.); AlphaCore Pharma LLC., Ann Arbor, MI (R.B.-A., B.A., B.R.K., R.H.); VascularStrategies LLC., Plymouth Meeting, PA (S.J.A., H.L.C.); and Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD (M.S.).
Papers in Europe PMC - 03Franceschini G9 papers · 2018
Centro Enrica Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Milano, Italia.
Papers in Europe PMC - 04Pritchard PH9 papers · 2014
Atherosclerosis Specialty Laboratory, Department of Pathology and Laboratory Medicine, St. Paul's Hospital, University of British Columbia, Vancouver, Canada.
Papers in Europe PMC - 05Bujo H7 papers · 2021
Department of Genome Research and Clinical Application, Graduate School of Medicine, Chiba University, Chiba, Japan.
Papers in Europe PMC - 06Freeman LA7 papers · 2024
From the National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD (R.D.S., A.M.S., L.A.F., M.J.A., A.W., A.T.R.); AlphaCore Pharma LLC., Ann Arbor, MI (R.B.-A., B.A., B.R.K., R.H.); VascularStrategies LLC., Plymouth Meeting, PA (S.J.A., H.L.C.); and Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD (M.S.).
Papers in Europe PMC - 07Kuroda M7 papers · 2025
Center for Advanced Medicine, Chiba University Hospital, Chiba University, Chiba, 260-8677, Japan.
Papers in Europe PMC - 08Manthei KA6 papers · 2025
Life Sciences Institute and the Departments of Pharmacology and Biological Chemistry, University of Michigan, Ann Arbor, Michigan 48109.
Papers in Europe PMC - 09Ossoli A6 papers · 2023
Centro E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari Università degli Studi di Milano, Milano, Italy.
Papers in Europe PMC - 10Boscutti G5 papers · 2016
SOC di Nefrologia e Dialisi, ASS2 Isontina Ospedale S. Giovanni di Dio, Gorizia, Italy. guiliano.boscutti@ass2.sanita.fvg.it
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT06217588·RECRUITING·LCAT (Lecithin Cholesterol Acyl Transferase) Natural History Study
Conditions: LCAT Deficiency·Matched via recall expansion
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Fish-eye disease" OR "Partial LCAT deficiency" OR "fish eye disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Fish-eye disease" OR "Partial LCAT deficiency" OR "fish eye disease" OR "LCAT"
Recall-expansion terms: LCAT
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: FED
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T02:13:29.919Z