RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:414

Gyrate atrophy of choroid and retina

low confidenceDisorder

Also known as: HOGA · Hyperornithinemia · Hyperornithinemia-gyrate atrophy of choroid and retina syndrome · Ornithine aminotransferase deficiency

Publications

1,640

Trials

1

Interventional, condition-specific

Researchers

1,129

Distinct authors in sample

Gene link

OAT

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal , characterized by chorioretinal atrophy, myopia and early cataract.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (7)

GACR · gyrate atrophy · gyrate atrophy of choroid and retina with or without ornithinemia · hoga · hyperornithinemia · hyperornithinemia-gyrate atrophy of choroid and retina syndrome · ornithine aminotransferase 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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — OAT

  2. LiteraturePresent

    1,640 matched papers (717 in last 10 years) Source

  3. Phenotype characterisedPresent

    27 HPO annotations (e.g. Posterior subcapsular cataract; Myopia; EMG abnormality) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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 (OAT).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

27

Associated phenotypes · MONDO:0009796

  • Posterior subcapsular cataract
  • Myopia
  • EMG abnormality
  • Macular thickening
  • Hyperornithinemia

Showing 5 of 27 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,640

1,640 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,640 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

717 in the last 10 years · low confidence

Phrase hits: 1,425 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,129

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.

  1. 01
    Cellini B8 papers · 2024

    Department of Medicine and Surgery, University of Perugia, Perugia, Italy.

    Papers in Europe PMC
  2. 02
    Balfoort BM6 papers · 2025

    Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, 1105, AZ, Amsterdam, the Netherlands.

    Papers in Europe PMC
  3. 03
    Brands MM6 papers · 2025

    Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, 1105, AZ, Amsterdam, the Netherlands. Electronic address: m.m.brands@amsterdamumc.nl.

    Papers in Europe PMC
  4. 04
    Elnahry AG6 papers · 2026

    Department of Ophthalmology, Faculty of Medicine, Cairo University, Cairo, Egypt.

    Papers in Europe PMC
  5. 05
    van Karnebeek CD6 papers · 2025

    Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, 1105, AZ, Amsterdam, the Netherlands; Department of Paediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, Nijmegen, the Netherlands.

    Papers in Europe PMC
  6. 06
    Boon CJF5 papers · 2025

    Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands and Amsterdam University Medical Centers, Academic Medical Center, Department of Ophthalmology, University of Amsterdam, Amsterdam, the Netherlands. Electronic address: camiel.boon@amsterdamumc.nl.

    Papers in Europe PMC
  7. 07
    Houtkooper RH5 papers · 2025

    Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam UMC, University of Amsterdam, 1105, AZ, Amsterdam, the Netherlands.

    Papers in Europe PMC
  8. 08
    Montioli R5 papers · 2026

    Section of Biological Chemistry, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.

    Papers in Europe PMC
  9. 09
    Timmer C5 papers · 2025

    Department Endocrinology and Metabolism Amsterdam UMC, Department of Nutrition and Dietetics, Amsterdam University Medical Center, Amsterdam, the Netherlands.

    Papers in Europe PMC
  10. 10
    Tripathy K5 papers · 2026

    Department of Ophthalmology, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

    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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th 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

5 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

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Gyrate atrophy of choroid and retina — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("Gyrate atrophy of choroid and retina" OR "Gyrate atrophy of the choroid and retina" OR "Hyperornithinemia" OR "Hyperornithinemia-gyrate atrophy of choroid and retina syndrome" OR "Hyperornithinemia-gyrate atrophy of the choroid and retina syndrome" OR "Ornithine aminotransferase deficiency" OR "gyrate atrophy" OR "gyrate atrophy of choroid and retina with or without ornithinemia" OR "gyrate atrophy of the choroid and retina with or without ornithinemia") OR ("OAT syndrome" OR "OAT-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Gyrate atrophy of choroid and retina" OR "Gyrate atrophy of the choroid and retina" OR "Hyperornithinemia" OR "Hyperornithinemia-gyrate atrophy of choroid and retina syndrome" OR "Hyperornithinemia-gyrate atrophy of the choroid and retina syndrome" OR "Ornithine aminotransferase deficiency" OR "gyrate atrophy" OR "gyrate atrophy of choroid and retina with or without ornithinemia" OR "gyrate atrophy of the choroid and retina with or without ornithinemia"

Interventional trials matched via: phrase (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 · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: HOGA; GACR

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1640) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T13:46:21.175Z