Disease Directory Butterfly-shaped pigment dystrophy
Rare Disease

Butterfly-shaped pigment dystrophy

Type

Disease

Gene

PRPH2, OTX2, CTNNA1

About Butterfly-shaped pigment dystrophy

Butterfly-shaped pigment dystrophy is a rare disease catalogued by Orphanet (ORPHA:99001). It is associated with the PRPH2, OTX2, CTNNA1 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 Butterfly-shaped pigment dystrophy trials.

Search ClinicalTrials.gov for "Butterfly-shaped pigment dystrophy" or filter by Orphanet code ORPHA:99001 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:99001)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Butterfly-shaped pigment dystrophy trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Butterfly-shaped pigment dystrophy. Updated daily.