RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:98977

Juvenile glaucoma

medium confidenceDisorder

Publications

1,090

90th percentile

Trials

1

Interventional, condition-specific

Researchers

992

Distinct authors in sample

Gene link

EFEMP1, MYOC

Definitive

Readiness

3/6

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — EFEMP1, MYOC

  2. LiteraturePresent

    1,090 matched papers (486 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

    1 matched on ClinicalTrials.gov

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)

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?

1,090

1,090 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.

1,090 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).

486 in the last 10 years · medium confidence · 90th 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?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  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?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 1,598 trials are registered for glaucoma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: glaucoma

1,598

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

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.

"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)"

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)" OR "EFEMP1" OR "MYOC"

Recall-expansion terms: EFEMP1, MYOC

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"glaucoma"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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