RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:67036

Autosomal dominant optic atrophy and cataract

low confidenceDisorder

Also known as: Autosomal dominant optic atrophy type 3 · OPA3, autosomal dominant

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

868

Trials

0

Interventional, condition-specific

Researchers

1,442

Distinct authors in sample

Gene link

OPA3

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A form of optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the OPA3 gene (19q13.32).

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 (2)

autosomal dominant optic atrophy type 3 · optic atrophy 3

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — OPA3

  2. LiteraturePresent

    868 matched papers (510 in last 10 years) Source

  3. Phenotype characterisedPresent

    43 HPO annotations (e.g. Areflexia; Somatic sensory dysfunction; Posterior cortical cataract) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPartial

    None under the specific name; 3 for broader category autosomal dominant optic atrophy

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 (OPA3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

43

Associated phenotypes · MONDO:0008133

  • Areflexia
  • Somatic sensory dysfunction
  • Posterior cortical cataract
  • Blindness
  • Red-green dyschromatopsia

Showing 5 of 43 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

868

868 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.

868 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).

510 in the last 10 years · low confidence

Phrase hits: 601 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,442

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Amati-Bonneau P8 papers · 2024

    University Angers, MitoLab team, UMR CNRS 6015-INSERM U1083, Unité MitoVasc, SFR ICAT, Angers, France.

    Papers in Europe PMC
  2. 02
    Wang Y8 papers · 2026

    Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.

    Papers in Europe PMC
  3. 03
    Bonneau D7 papers · 2022

    University Angers, MitoLab team, UMR CNRS 6015-INSERM U1083, Unité MitoVasc, SFR ICAT, Angers, France.

    Papers in Europe PMC
  4. 04
    Reynier P7 papers · 2024

    University Angers, MitoLab team, UMR CNRS 6015-INSERM U1083, Unité MitoVasc, SFR ICAT, Angers, France.

    Papers in Europe PMC
  5. 05
    Anikster Y6 papers · 2022

    Molecular Genetics Laboratory, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

    Papers in Europe PMC
  6. 06
    Lenaers G6 papers · 2022

    Institut des Neurosciences de Montpellier, U1051 de l'INSERM, Université de Montpellier I et II, BP 74103, F-34091 Montpellier cedex 05, France. guy.lenaers@inserm.fr

    Papers in Europe PMC
  7. 07
    Chen X4 papers · 2026

    Department of Biomedical Engineering, Guangzhou Medical University, Guangzhou, China.

    Papers in Europe PMC
  8. 08
    Chen Y4 papers · 2024

    Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.

    Papers in Europe PMC
  9. 09
    Liu Y4 papers · 2026

    Department of Otorhinolaryngology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, People's Republic of China.

    Papers in Europe PMC
  10. 10
    Procaccio V4 papers · 2022

    University Angers, MitoLab team, UMR CNRS 6015-INSERM U1083, Unité MitoVasc, SFR ICAT, Angers, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 3 trials are registered for autosomal dominant optic atrophy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

3 interventional trials matched autosomal dominant optic atrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: autosomal dominant optic atrophy

3

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 20 · after dedupe 19 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 19 · dropped 0 · fetched 2026-07-30

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).

Uncertain / not reviewed (19)

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 Autosomal dominant optic atrophy and cataract — 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.

("Autosomal dominant optic atrophy and cataract" OR "Autosomal dominant optic atrophy type 3" OR "OPA3, autosomal dominant" OR "optic atrophy 3") OR (MESH:"Optic atrophy and cataract, autosomal dominant") OR ("OPA3" OR "OPA3 syndrome" OR "OPA3-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Optic atrophy and cataract, autosomal dominant

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

"Autosomal dominant optic atrophy and cataract" OR "Autosomal dominant optic atrophy type 3" OR "OPA3, autosomal dominant" OR "optic atrophy 3" OR "Optic atrophy and cataract, autosomal dominant"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"autosomal dominant optic atrophy"

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (868) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T01:23:40.174Z