ORPHA:67036
Autosomal dominant optic atrophy and cataract
Also known as: Autosomal dominant optic atrophy type 3 · OPA3, autosomal dominant
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
601
Trials
0
Interventional, condition-specific
Researchers
1,442
Distinct authors in sample
Gene link
OPA3
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008133
- MeSH:C537128
- OMIM:165300
- UMLS:C1833809
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — OPA3
- LiteraturePresent
601 matched papers (341 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 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)
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?
601
601 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=5449) is 41.
601 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).
341 in the last 10 years · low confidence
Phrase hits: 601 · MeSH hits: 0
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.
- 01Amati-Bonneau P8 papers · 2024
University Angers, MitoLab team, UMR CNRS 6015-INSERM U1083, Unité MitoVasc, SFR ICAT, Angers, France.
Papers in Europe PMC - 02Wang Y8 papers · 2026
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
Papers in Europe PMC - 03Bonneau D7 papers · 2022
University Angers, MitoLab team, UMR CNRS 6015-INSERM U1083, Unité MitoVasc, SFR ICAT, Angers, France.
Papers in Europe PMC - 04Reynier P7 papers · 2024
University Angers, MitoLab team, UMR CNRS 6015-INSERM U1083, Unité MitoVasc, SFR ICAT, Angers, France.
Papers in Europe PMC - 05Anikster 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 - 06Lenaers 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 - 07Chen X4 papers · 2026
Department of Biomedical Engineering, Guangzhou Medical University, Guangzhou, China.
Papers in Europe PMC - 08Chen Y4 papers · 2024
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
Papers in Europe PMC - 09Liu 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 - 10Procaccio 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th 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
- NCT06970106·RECRUITING·Safety of Single and Repeat Dose of PYC-001 Eye Injections in People With Autosomal Dominant Optic Atrophy (Myrtle)
Conditions: OPA1 Gene Mutation · Autosomal Dominant Optic Atrophy · Hereditary Optic Atrophies · Kjer Optic Atrophy·Matched via name phrase
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.
"Autosomal dominant optic atrophy and cataract" OR "Autosomal dominant optic atrophy type 3" OR "OPA3, autosomal dominant" OR "optic atrophy 3"
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" OR "OPA3"
Recall-expansion terms: OPA3
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, recall-expansion; 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 (601) 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