ORPHA:98976
Congenital glaucoma
Also known as: Buphthalmia · Buphthalmos · Buphthalmus · Primary congenital glaucoma
Publications
6,875
96.5th percentile
Trials
21
Interventional, condition-specific
Researchers
963
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare ophthalmic disorder characterized by an elevated intra-ocular pressure. The clinical presentation frequently associates an increase in the size of the eye, as well as corneal edema.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
6,875 matched papers (3,315 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 trialPresent
21 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?
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?
6,875
6,875 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=5449) is 41.
6,875 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).
3,315 in the last 10 years · high confidence · 96.5th percentile (publications denominator)
Phrase hits: 6,875 · MeSH hits: 0
Who's working on it?
963
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.
- 01Gupta V15 papers · 2026
From the Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences (S.G., A.P., R.A., A.K., A.K.P., V.G.), New Delhi, India.
Papers in Europe PMC - 02Gupta S12 papers · 2026
From the Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences (S.G., A.P., R.A., A.K., A.K.P., V.G.), New Delhi, India. Electronic address: shikhagupta@aiims.edu.
Papers in Europe PMC - 03Panigrahi A9 papers · 2026
From the Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences (S.G., A.P., R.A., A.K., A.K.P., V.G.), New Delhi, India.
Papers in Europe PMC - 04Kaushik S6 papers · 2025
Advanced Eye Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Papers in Europe PMC - 05Bohnsack BL5 papers · 2026
Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois; Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, Illinois. Electronic address: bbohnsack@luriechildrens.org.
Papers in Europe PMC - 06Elhusseiny AM5 papers · 2026
Faculty of Medicine, Cairo University, Cairo, Egypt. Electronic address: abdelrhman.elhussieny@gmail.com.
Papers in Europe PMC - 07Mandal AK5 papers · 2026
Jasti V Ramanamma Children's Eye Care Centre, Child Sight Institute, L V Prasad Eye Institute, Hyderabad, Telangana, India.
Papers in Europe PMC - 08Pandav SS5 papers · 2025
Advanced Eye Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Papers in Europe PMC - 09Elwehidy AS4 papers · 2026
Ophthalmology, Faculty of Medicine, Mansoura University, Egypt.
Papers in Europe PMC - 10Jacobson A4 papers · 2026
Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
21
interventional trials for this specific condition
21 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
21 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 94.7th percentile).
high confidence · 94.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
21 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07504315·NOT YET RECRUITING·Study Aim to Compare the Effect of Different Technique of Airway Managment During Anaesthesia on the Haemodynamics and Intraocular Pressure. Patients Were Divided Into Three Groups of 25 Patients Each. (Group A); Patients Who Were Subjected to LMA Insertion (Group B ).
Conditions: Congenital Glaucoma·Matched via name phrase
Observational and natural-history studies
4 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.
Recruiting or not-yet-recruiting
- NCT07550868·NOT YET RECRUITING·Goniotomy in Primary Congenital Glaucoma
Conditions: Primary Congenital Glaucoma · Goniotomy·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.
"Congenital glaucoma" OR "Buphthalmia" OR "Buphthalmos" OR "Buphthalmus" OR "Primary congenital glaucoma"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital glaucoma" OR "Buphthalmia" OR "Buphthalmos" OR "Buphthalmus" OR "Primary congenital glaucoma"
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: 21 interventional · 4 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
Ingested 2026-07-27T05:50:25.584Z