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ORPHA:435930

Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

high confidenceDisorder

Publications

1

7th percentile

Trials

1

Interventional, condition-specific

Researchers

14

Distinct authors in sample

Gene link

SIX6

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

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

    Strong — SIX6

  2. LiteraturePresent

    1 matched papers (1 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 (SIX6).

GenCC classification: Strong.

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

1 paper 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.

1 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).

1 in the last 10 years · high confidence · 7th percentile (publications denominator)

Phrase hits: 1 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

14

Distinct author names in 1 sampled paper — 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
    Allende ML1 paper · 2020

    Center for Genome Regulation Facultad de Ciencias, Santiago Universidad de Chile Santiago Chile.

    Papers in Europe PMC
  2. 02
    Covello G1 paper · 2020

    Department of Cellular, Computational and Integrative Biology - CIBIO University of Trento Trento Italy.

    Papers in Europe PMC
  3. 03
    Domenici E1 paper · 2020

    Department of Cellular, Computational and Integrative Biology - CIBIO University of Trento Trento Italy.

    Papers in Europe PMC
  4. 04
    Duchemin AL1 paper · 2020

    Centre for Organismal Study Heidelberg University Heidelberg Germany.

    Papers in Europe PMC
  5. 05
    Eichenlaub M1 paper · 2020

    Australian Regenerative Medicine Institute Monash University Clayton VIC Clayton Australia.

    Papers in Europe PMC
  6. 06
    Filosi M1 paper · 2020

    Department of Cellular, Computational and Integrative Biology - CIBIO University of Trento Trento Italy.

    Papers in Europe PMC
  7. 07
    Gajardo F1 paper · 2020

    Center for Genome Regulation Facultad de Ciencias, Santiago Universidad de Chile Santiago Chile.

    Papers in Europe PMC
  8. 08
    Ngai J1 paper · 2020

    Department of Molecular and Cell Biology & Helen Wills Neuroscience Institute University of California Berkeley CA USA.

    Papers in Europe PMC
  9. 09
    Poggi L1 paper · 2020

    Department of Cellular, Computational and Integrative Biology - CIBIO University of Trento Trento Italy.

    Papers in Europe PMC
  10. 10
    Polo JM1 paper · 2020

    Australian Regenerative Medicine Institute Monash University Clayton VIC Clayton Australia.

    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.

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).

high 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.

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.

"Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome"

Run this search on Europe PMC

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

"Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome" OR "SIX6"

Recall-expansion terms: SIX6

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.

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

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 2026-07-27T16:03:45.360Z