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ORPHA:98938

Isolated colobomatous microphthalmia

medium confidenceDisorder

Also known as: Isolated microphthalmia with colobomatous cyst

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

24,505

98.3th percentile

Trials

0

Interventional, condition-specific

Researchers

1,140

Distinct authors in sample

Gene link

KIF17, RBP4

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

MAC · colobomatous microphthalmia · microphthalmia with colobomatous cyst · microphthalmia-anophthalmia-coloboma syndrome

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — KIF17, RBP4

  2. LiteraturePresent

    24,505 matched papers (17,844 in last 10 years) Source

  3. Phenotype characterisedPresent

    84 HPO annotations (e.g. Retinal detachment; High myopia; Nuclear cataract) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (KIF17, RBP4).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

84

Associated phenotypes · MONDO:0000170

  • Retinal detachment
  • High myopia
  • Nuclear cataract
  • Blindness
  • Optic disc coloboma

Showing 5 of 84 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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

1

Drugs / clinical candidates · MONDO_0000170

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

24,505

24,505 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.

24,505 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).

17,844 in the last 10 years · medium confidence · 98.3th percentile (publications denominator)

Phrase hits: 152 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,140

Distinct author names in 152 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
    Chassaing N8 papers · 2026

    CHU Toulouse, Service de Génétique Médicale, Hôpital Purpan, 31059 Toulouse, France; Université Paul-Sabatier Toulouse III, EA-4555, 31000 Toulouse, France; Inserm U1056, 31000 Toulouse, France;

    Papers in Europe PMC
  2. 02
    Brooks BP7 papers · 2025

    Pediatric, Developmental & Genetic Ophthalmology Section, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States.

    Papers in Europe PMC
  3. 03
    Reis LM7 papers · 2026

    Department of Pediatrics and Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, Wisconsin, United States of America.

    Papers in Europe PMC
  4. 04
    Semina EV7 papers · 2026

    Department of Pediatrics and Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, Wisconsin, United States of America; Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.

    Papers in Europe PMC
  5. 05
    Calvas P6 papers · 2023

    CHU Toulouse, Service de Génétique Médicale, Hôpital Purpan, 31059 Toulouse, France; Université Paul-Sabatier Toulouse III, EA-4555, 31000 Toulouse, France; Inserm U1056, 31000 Toulouse, France;

    Papers in Europe PMC
  6. 06
    Hufnagel RB6 papers · 2025

    Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, MLC 4006, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.

    Papers in Europe PMC
  7. 07
    Blain D5 papers · 2025

    Pediatric, Developmental & Genetic Ophthalmology Section, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States.

    Papers in Europe PMC
  8. 08
    George A5 papers · 2025

    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  9. 09
    Guan B5 papers · 2025

    Ophthalmic Genetics Laboratory, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States.

    Papers in Europe PMC
  10. 10
    Maumenee IH5 papers · 2025

    Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Ophthalmological Institute, Johns Hopkins Medical Institutions, Baltimore, Maryland.

    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).

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.

Broader category microphthalmia also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: microphthalmia

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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

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 Isolated colobomatous microphthalmia — 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.

("Isolated colobomatous microphthalmia" OR "Isolated microphthalmia with colobomatous cyst" OR "colobomatous microphthalmia" OR "microphthalmia with colobomatous cyst" OR "microphthalmia-anophthalmia-coloboma syndrome") OR (MESH:"Microphthalmia associated with colobomatous cyst") OR ("KIF17" OR "KIF17 syndrome" OR "KIF17-related" OR "RBP4" OR "RBP4 syndrome" OR "RBP4-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Microphthalmia associated with colobomatous cyst

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

"Isolated colobomatous microphthalmia" OR "Isolated microphthalmia with colobomatous cyst" OR "colobomatous microphthalmia" OR "microphthalmia with colobomatous cyst" OR "microphthalmia-anophthalmia-coloboma syndrome" OR "Microphthalmia associated with colobomatous cyst"

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

Parent-category trials query:

"microphthalmia"

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MAC

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 2026-07-27T05:45:05.900Z