pigmented paravenous chorioretinal atrophy (PPCRA)

Pathology

• retinal degeneration
• accumulation of pigmentation along retinal veins

Genetics

• autosomal dominant, with variable expressivity
• ales are more likely to exhibit a severe phenotype
• females may remain virtually asymptomatic
• mutation in CRB1 gene

More general terms

• genetic disease of the eye

Additional terms

• crumbs homolog 1 (CRB1)

Database

• OMIM: https://mirror.omim.org/entry/172870