ORPHA:155884
Coloboma of superior eyelid
Also known as: Superior palpebral coloboma
Publications
3
1.9th percentile
Trials
0
Interventional, condition-specific
Researchers
11
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015480
- UMLS:C1863872
Additional Mondo synonyms (1)
superior palpebral coloboma
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
3 matched papers (0 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?
3
3 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
3 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).
0 in the last 10 years · high confidence · 1.9th percentile (publications denominator)
Phrase hits: 3 · MeSH hits: 0
Who's working on it?
11
Distinct author names in 3 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.
- 01Bessrour R1 paper · 1992Papers in Europe PMC
- 02Bruscolini A1 paper · 2015
Department of Sense Organs, Sapienza University, Viale del Policlinico 155, 00186 Rome, Italy.
Papers in Europe PMC - 03Gmar R1 paper · 1992Papers in Europe PMC
- 04Lambiase A1 paper · 2015
Department of Sense Organs, Sapienza University, Viale del Policlinico 155, 00186 Rome, Italy.
Papers in Europe PMC - 05Lasram L1 paper · 1992
Service d'ophtalmologie, Hôpital Charles-Nicolle, Tunis, Tunisie.
Papers in Europe PMC - 06Mantelli F1 paper · 2015
Department of Biology, College of Science and Technology, Temple University, 1900 N. 12 Street, Philadelphia, PA 19122, USA.
Papers in Europe PMC - 07Mortada A1 paper · 1969Papers in Europe PMC
- 08Nardella C1 paper · 2015
Department of Sense Organs, Sapienza University, Viale del Policlinico 155, 00186 Rome, Italy.
Papers in Europe PMC - 09Ouertani A1 paper · 1992Papers in Europe PMC
- 10Sacchetti M1 paper · 2015
Cornea and Ocular Surface Unit, Ospedale San Raffaele IRCCS, Via Olgettina 60, 20132 Milan, Italy.
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 superior eyelid" OR "Coloboma of the superior eyelid" OR "Superior palpebral coloboma"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Coloboma of superior eyelid" OR "Coloboma of the superior eyelid" OR "Superior palpebral coloboma"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"coloboma"
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 2026-07-27T07:57:35.782Z