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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.
Features include: Retinal detachment, Chorioretinal dystrophy, Nystagmus, and Visual impairment and 2 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 3 | Retinal detachment, Nystagmus, Visual impairment |
Muscles |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for progressive bifocal chorioretinal atrophy.
5 publications have been identified in PubMed for progressive bifocal chorioretinal atrophy. Research spans Case Report / Case Series (25%), Clinical Trial Publication (25%), and Epidemiology / Natural History (25%).
Zhu M (2025). [PMID: 40038626](https://pubmed.ncbi.nlm.nih.gov/40038626/). *BMC Ophthalmol*. [Clinical Trial Publication]
Lin S (2025). [PMID: 39632990](https://pubmed.ncbi.nlm.nih.gov/39632990/). *Eye (Lond)*. [Case Report / Case Series]
Jonas JB (2025). [PMID: 40067096](https://pubmed.ncbi.nlm.nih.gov/40067096/). *Acta Ophthalmol*. [Epidemiology / Natural History]
Chacon-Camacho OF (2024). [PMID: 39959174](https://pubmed.ncbi.nlm.nih.gov/39959174/). *Mol Vis*. [Gene Therapy / Novel Therapeutics]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
1
Chorioretinal atrophy |
Age of onset: at birth.
AI-curated news mentioning progressive bifocal chorioretinal atrophy
Updated Jan 29, 2026
A recent expert consensus outlines the characteristics, etiology, and management strategies for chorioretinal atrophy in patients treated with voretigene neparvovec. This consensus aims to enhance understanding and treatment approaches for this condition.