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ORPHA:637061

Isolated optic nerve hypoplasia

low confidenceDisorder

Publications

3,067

Trials

4

Interventional, condition-specific

Researchers

1,023

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare developmental defect during embryogenesis characterized by underdevelopment of the optic nerve with a subnormal number of optic nerve axons. The condition may be unilateral or bilateral and can occur as an isolated defect or accompany other ocular or cerebral abnormalities. Funduscopic examination reveals a small optic disc, often associated with the ''double-ring'' sign, a ring of hypo- or hyperpigmentation surrounding the disc. Clinically, vision may be severely impaired or remain unaffected.

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 (4)

Optic Nerve Hypoplasia · familial bilateral optic nerve hypoplasia · optic nerve hypoplasia, bilateral · optic nerve hypoplasia, familial bilateral

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.”

2/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    3,067 matched papers (1,671 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    4 matched on ClinicalTrials.gov (2 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

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?

3,067

3,067 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.

3,067 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).

1,671 in the last 10 years · low confidence

Phrase hits: 3,067 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,023

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
    Salman MS10 papers · 2026

    Section of Pediatric Neurology, Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

    Papers in Europe PMC
  2. 02
    Ruth CA7 papers · 2026

    Section of Neonatology, Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

    Papers in Europe PMC
  3. 03
    Yogendran MS5 papers · 2026

    Department of Community Health Sciences, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

    Papers in Europe PMC
  4. 04
    Lix LM4 papers · 2026

    Department of Community Health Sciences, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

    Papers in Europe PMC
  5. 05
    Hossain S3 papers · 2024

    Department of Mathematics and Statistics, University of Winnipeg, Winnipeg, MB, Canada.

    Papers in Europe PMC
  6. 06
    Rozovsky K3 papers · 2024

    Section of Pediatric Radiology, Department of Radiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

    Papers in Europe PMC
  7. 07
    Al-Ajmi E2 papers · 2024

    Department of Radiology and Molecular Imaging, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman.

    Papers in Europe PMC
  8. 08
    Aparicio JG2 papers · 2025

    The Vision Center and The Saban Research Institute, Children's Hospital Los Angeles, Los Angeles, California, USA.

    Papers in Europe PMC
  9. 09
    Battini R2 papers · 2026

    Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy

    Papers in Europe PMC
  10. 10
    Birznieks G2 papers · 2023

    Vanda Pharmaceuticals Inc., Washington, DC, United States.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 27 July 2026

4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).

low confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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 2026-07-26

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.

"Isolated optic nerve hypoplasia" OR "Optic Nerve Hypoplasia" OR "familial bilateral optic nerve hypoplasia" OR "optic nerve hypoplasia, bilateral" OR "optic nerve hypoplasia, familial bilateral"

Run this search on Europe PMC

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

"Isolated optic nerve hypoplasia" OR "Optic Nerve Hypoplasia" OR "familial bilateral optic nerve hypoplasia" OR "optic nerve hypoplasia, bilateral" OR "optic nerve hypoplasia, familial bilateral"

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: 4 interventional · 0 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

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 (3067) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T19:32:48.362Z