pigmented paravenous retinochoroidal atrophy
Findings
No curated finding names pigmented paravenous retinochoroidal atrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.
Definition from the Mondo Disease Ontology (MONDO:0008246), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CRB1HGNC:2343
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · G2P · Autosomal dominant · 2017
- Limited · Natera · Unknown · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: pigmented paravenous retinochoroidal atrophy
- Also called
- PPRCA