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ORPHA:98673

Autosomal dominant optic atrophy, classic form

high confidenceDisorder

Also known as: Autosomal dominant optic atrophy, Kjer type · Kjer optic atrophy · Optic atrophy type 1

Publications

14,380

97.3th percentile

Trials

2

Interventional, condition-specific

Researchers

1,226

Distinct authors in sample

Gene link

OPA1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare neuro-ophthalmological disease which is one of the most common forms of optic characterized by bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and color vision defects.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

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, Kjer type · optic atrophy type 1

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

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

  1. Gene identifiedPresent

    Definitive — OPA1

  2. LiteraturePresent

    14,380 matched papers (11,573 in last 10 years) Source

  3. Phenotype characterisedPresent

    58 HPO annotations (e.g. Central scotoma; Centrocecal scotoma; Red-green dyschromatopsia) 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 trialPresent

    2 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (OPA1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

58

Associated phenotypes · MONDO:0008134

  • Central scotoma
  • Centrocecal scotoma
  • Red-green dyschromatopsia
  • Horizontal nystagmus
  • Reduced visual acuity

Showing 5 of 58 — 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?

14,380

14,380 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

14,380 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).

11,573 in the last 10 years · high confidence · 97.3th percentile (publications denominator)

Phrase hits: 403 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,226

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
    Zhang J8 papers · 2026

    The Third Unit, The Department of Hepatology, Beijing Youan Hospital, Capital Medical University, Beijing 100069, China.

    Papers in Europe PMC
  2. 02
    Zhang Y7 papers · 2025

    Beijing Institute of Hepatology, Beijing Youan Hospital, Capital Medical University, Beijing 100069, China.

    Papers in Europe PMC
  3. 03
    Ju WK6 papers · 2024

    Hamilton Glaucoma Center, University of California San Diego, La Jolla, CA 92037, USA. danielju@glaucoma.ucsd.edu

    Papers in Europe PMC
  4. 04
    Kim KY6 papers · 2024

    National Center for Microscopy and Imaging Research and Department of Neuroscience, University of California San Diego, La Jolla, California, USA.

    Papers in Europe PMC
  5. 05
    Yu Y6 papers · 2026

    Zhongshan Hospital, Department of Pulmonary and Critical Care Medicine, Shanghai Institute of Clinical Bioinformatics, Shanghai Engineering Research for AI Technology for Cardiopulmonary Diseases, Shanghai, China.

    Papers in Europe PMC
  6. 06
    Chen Y5 papers · 2023

    The School of Optometry and Vision Science, University of Waterloo, Waterloo, ON, Canada.

    Papers in Europe PMC
  7. 07
    Li H5 papers · 2026

    Beijing Institute of Dental Research, Beijing Stomatological Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  8. 08
    Wang J5 papers · 2025

    National Regional Children's Medical Center (Northwest), Xi'an, China.

    Papers in Europe PMC
  9. 09
    Zhang X5 papers · 2026

    Beijing Key Laboratory of Innovative Drug Discovery of Traditional Chinese Medicine (Natural Medicine) and Translational Medicine Institute of Medicinal Plant DevelopmentPeking Union Medical College and Chinese Academy of Medical Sciences Beijing China.

    Papers in Europe PMC
  10. 10
    Bastola T4 papers · 2024

    Hamilton Glaucoma Center and Shiley Eye Institute, Viterbi Family Department of Ophthalmology, University of California San Diego, La Jolla, CA 92093, USA; (T.B.); (V.A.N.H.); (Z.S.); (R.N.W.)

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 1 trial 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 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

high confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: autosomal dominant optic atrophy

1

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.

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.

None of the matched observational studies is currently listed as 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)

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, classic form — 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, classic form" OR "Autosomal dominant optic atrophy, Kjer type" OR "Kjer optic atrophy" OR "Optic atrophy type 1") OR ("OPA1" OR "OPA1 syndrome" OR "OPA1-related")

Run this search on Europe PMC

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

"Autosomal dominant optic atrophy, classic form" OR "Autosomal dominant optic atrophy, Kjer type" OR "Kjer optic atrophy" OR "Optic atrophy type 1"

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: 2 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"autosomal dominant optic atrophy"

Query health: ok — strategies attempted: phrase; 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

Ingested 2026-07-27T05:19:13.192Z