Disease Directory Colobomatous microphthalmia
Ophthalmological

Colobomatous microphthalmia

Type

Malformation syndrome

Gene

SHH, STRA6, VSX2, GDF6, GDF3, ABCB6

About Colobomatous microphthalmia

Colobomatous microphthalmia is a rare disease catalogued by Orphanet (ORPHA:98938). It is associated with the SHH, STRA6, VSX2 genes. Search below for active recruiting clinical trials from ClinicalTrials.gov, or visit the Orphanet expert page for specialist centres, natural history studies, and patient registries.

Clinical Trial Eligibility Tips

What to know before applying to Colobomatous microphthalmia trials.

Search ClinicalTrials.gov for "Colobomatous microphthalmia" or filter by Orphanet code ORPHA:98938 to find disease-specific studies.

Ask your specialist to refer you to a Centre of Expertise — Orphanet lists all accredited centres for this condition worldwide.

Natural history studies and patient registries often enrol before drug trials open — contact the Orphanet patient community first.

Patient Resources

Patient Organization

Orphanet

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Orphanet

European reference resource for rare diseases (ORPHA:98938)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Colobomatous microphthalmia trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Colobomatous microphthalmia. Updated daily.