progressive bifocal chorioretinal atrophy
Findings
No curated finding names progressive bifocal chorioretinal atrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.
Definition from the Mondo Disease Ontology (MONDO:0010932), read 2026-09-29. CC BY 4.0.
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Chorioretinal dystrophyHPOHP:0001135
- Very frequent (80% to 99% of cases)
- EsotropiaHPOHP:0000565
- Very frequent (80% to 99% of cases)
- Macular atrophyHPOHP:0007401
- Very frequent (80% to 99% of cases)
- MyopiaHPOHP:0000545
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- Very frequent (80% to 99% of cases)
- Visual impairmentHPOHP:0000505
- Very frequent (80% to 99% of cases)
- Pigmentary retinopathyHPOHP:0000580
- Occasional (5% to 29% of cases)
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.
- PRDM13HGNC:13998
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: progressive bifocal chorioretinal atrophy
- Also called
- CRAPBPBCRA