Disease Directory Coloboma of macula
Rare Disease

Coloboma of macula

Type

Morphological anomaly

Gene

FZD5, SALL2, ABCB6, PAX6

About Coloboma of macula

Coloboma of macula is a rare disease catalogued by Orphanet (ORPHA:98945). It is associated with the FZD5, SALL2, ABCB6 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 Coloboma of macula trials.

Search ClinicalTrials.gov for "Coloboma of macula" or filter by Orphanet code ORPHA:98945 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

Visit website ↗

Orphanet

European reference resource for rare diseases (ORPHA:98945)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Coloboma of macula trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Coloboma of macula. Updated daily.