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ORPHA:98977

Juvenile glaucoma

medium confidenceDisorder

Publications

6,149

93.7th percentile

Trials

0

Interventional, condition-specific

Researchers

992

Distinct authors in sample

Gene link

EFEMP1, MYOC

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare primary early-onset glaucoma characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.

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 (7)

JOAG · childhood glaucoma (disease) · glaucoma (disease) of childhood · glaucoma of childhood · juvenile glaucoma · paediatric glaucoma (disease) · pediatric glaucoma (disease)

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

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

  1. Gene identifiedPresent

    Definitive — EFEMP1, MYOC

  2. LiteraturePresent

    6,149 matched papers (3,944 in last 10 years) Source

  3. Phenotype characterisedPresent

    21 HPO annotations (e.g. Visual impairment; Optic neuropathy; Abnormality iris morphology) Source

  4. Animal modelPresent

    1 genotype model (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 trialPartial

    None under the specific name; 1617 for broader category glaucoma

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 (EFEMP1, MYOC).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

21

Associated phenotypes · MONDO:0020367

  • Visual impairment
  • Optic neuropathy
  • Abnormality iris morphology
  • Abnormal optic nerve morphology
  • Abnormal anterior chamber morphology

Showing 5 of 21 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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?

6,149

6,149 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.

6,149 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).

3,944 in the last 10 years · medium confidence · 93.7th percentile (publications denominator)

Phrase hits: 1,090 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

992

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
    Gupta V7 papers · 2025

    Dr RP Center of Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

    Papers in Europe PMC
  2. 02
    Hoffmann EM7 papers · 2026

    Department of Ophthalmology, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.

    Papers in Europe PMC
  3. 03
    Pfeiffer N7 papers · 2026

    Department of Ophthalmology, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.

    Papers in Europe PMC
  4. 04
    Schuster AK7 papers · 2026

    Department of Ophthalmology, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.

    Papers in Europe PMC
  5. 05
    Elhusseiny AM5 papers · 2025

    Department of Ophthalmology, Harvey and Bernice Jones Eye Institute.

    Papers in Europe PMC
  6. 06
    Gupta S5 papers · 2025

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

    Papers in Europe PMC
  7. 07
    Stingl JV5 papers · 2025

    Department of Ophthalmology, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.

    Papers in Europe PMC
  8. 08
    Wagner FM5 papers · 2025

    Department of Ophthalmology, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany.

    Papers in Europe PMC
  9. 09
    Zhang Y5 papers · 2025

    Department of Ophthalmology, West China Hospital of Sichuan University, Chengdu, China.

    Papers in Europe PMC
  10. 10
    Grehn F4 papers · 2024

    Department of Ophthalmology, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany.

    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). 1,617 trials are registered for glaucoma, 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.

medium 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.

1,617 interventional trials matched glaucoma, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: glaucoma

1,617

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 8 · after dedupe 8 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 8 · 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 (8)

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 Juvenile glaucoma — 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.

("Juvenile glaucoma" OR "childhood glaucoma (disease)" OR "glaucoma (disease) of childhood" OR "glaucoma (disease) of the childhood" OR "glaucoma of childhood" OR "glaucoma of the childhood" OR "paediatric glaucoma (disease)" OR "pediatric glaucoma (disease)") OR ("EFEMP1" OR "EFEMP1 syndrome" OR "EFEMP1-related" OR "MYOC" OR "MYOC syndrome" OR "MYOC-related")

Run this search on Europe PMC

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

"Juvenile glaucoma" OR "childhood glaucoma (disease)" OR "glaucoma (disease) of childhood" OR "glaucoma (disease) of the childhood" OR "glaucoma of childhood" OR "glaucoma of the childhood" OR "paediatric glaucoma (disease)" OR "pediatric glaucoma (disease)"

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

Parent-category trials query:

"glaucoma"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: JOAG

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T05:50:37.720Z