ORPHA:98944
Coloboma of iris
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
895
80.9th percentile
Trials
0
Interventional, condition-specific
Researchers
1,079
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral notch, gap, hole or fissure, typically located in the inferonasal quadrant of the eye, involving only the pigment epithelium or the iris stroma (incomplete) or involving both (complete), manifesting with iris shape anomalies (e.g. 'keyhole' or oval pupil) and/or photophobia. Association with colobomata in other parts of the eye (incl. ciliary body, zonule, choroid, retina, optic nerve) and complex syndromes (such as CHARGE syndrome) may be observed.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0020356
- UMLS:C0240063
- NCIT:C98879
Additional Mondo synonyms (3)
coloboma of iris · coloboma of iris (disease) · coloboma of the iris
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
895 matched papers (234 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 trialPartial
None under the specific name; 1 for broader category coloboma
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?
895
895 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.
895 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).
234 in the last 10 years · high confidence · 80.9th percentile (publications denominator)
Phrase hits: 895 · MeSH hits: 0
Who's working on it?
1,079
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.
- 01Brooks BP6 papers · 2026
Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA. brooksb@mail.nih.gov.
Papers in Europe PMC - 02Guan B6 papers · 2026
Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 03Li Y5 papers · 2023
Institute of Human Genetics, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
Papers in Europe PMC - 04Blain D4 papers · 2026
Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 05George A4 papers · 2025
Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 06Mehta R4 papers · 2022
Department of Pediatrics Rutgers RWJ Medical School New Brunswick New Jersey USA.
Papers in Europe PMC - 07Ullah E4 papers · 2025
Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 08Adams C3 papers · 2025
Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 09Arno G3 papers · 2025
UCL Institute of Ophthalmology, University College London, London, UK.
Papers in Europe PMC - 10Bender C3 papers · 2025
Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
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 trial are registered for coloboma, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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 interventional trial matched coloboma, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: coloboma
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.
Recruiting under the broader category
- NCT02157025·RECRUITING·A More Engaging Visual Field Test to Increase Use and Reliability in Pediatrics
Conditions: Glaucoma, Suspect · Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System · Congenital Coloboma of the Optic Nerve · Optic Nerve Head Pits, Bilateral Congenital·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.
"Coloboma of iris" OR "Coloboma of the iris" OR "coloboma of iris (disease)" OR "coloboma of the iris (disease)"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Coloboma of iris" OR "Coloboma of the iris" OR "coloboma of iris (disease)" OR "coloboma of the iris (disease)" OR "coloboma, ocular, autosomal dominant"
Recall-expansion terms: coloboma, ocular, autosomal dominant
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"coloboma"
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-27T05:45:32.532Z