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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.
Features include: Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Hypermetropia, and Vitreoretinopathy and 1 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 1 | Bone spicule pigmentation of the retina |
CRB1 encodes crumbs cell polarity complex component 1 (1,406 aa). Plays a role in photoreceptor morphogenesis in the retina. May maintain cell polarization and adhesion Highest expression in Brain Cerebellar Hemisphere (4.5 TPM) and Brain Cerebellum (4.5 TPM).
Pigmented paravenous retinochoroidal atrophy is associated with mutations in the CRB1 gene on chromosome 1.
CRB1 is classified as a druggable target (Druggable Genome category) with score 0.0.
Genetic testing for CRB1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for pigmented paravenous retinochoroidal atrophy has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for pigmented paravenous retinochoroidal atrophy.
18 publications have been identified in PubMed for pigmented paravenous retinochoroidal atrophy. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (33%), and Diagnostic / Biomarker (6%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 9 | 50% |
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
1 |
Paravenous chorioretinal atrophy |
Research summaries
6 |
33% |
Testing and diagnosis research | 1 | 6% |
Disease patterns and progression | 1 | 6% |
New treatment approaches | 1 | 6% |
Oku K (2026). [PMID: 41543775](https://pubmed.ncbi.nlm.nih.gov/41543775/). *Graefes Arch Clin Exp Ophthalmol*. [Gene Therapy / Novel Therapeutics]
Phiri P (2026). [PMID: 41843216](https://pubmed.ncbi.nlm.nih.gov/41843216/). *Int Ophthalmol*. [Review / Meta-Analysis]
Ravilla PK (2026). [PMID: 42203979](https://pubmed.ncbi.nlm.nih.gov/42203979/). *Eye (Lond)*. [Diagnostic / Biomarker]
Xu Y (2026). [PMID: 41622658](https://pubmed.ncbi.nlm.nih.gov/41622658/). *Am J Case Rep*. [Case Report / Case Series]
Cruz N (2026). [PMID: 42203981](https://pubmed.ncbi.nlm.nih.gov/42203981/). *Eye (Lond)*. [Review / Meta-Analysis]
Morkan DB (2026). [PMID: 40695600](https://pubmed.ncbi.nlm.nih.gov/40695600/). *Clin Exp Optom*. [Case Report / Case Series]
Colombo L (2025). [PMID: 39149958](https://pubmed.ncbi.nlm.nih.gov/39149958/). *Eur J Ophthalmol*. [Case Report / Case Series]
Fard S (2025). [PMID: 40796005](https://pubmed.ncbi.nlm.nih.gov/40796005/). *Can J Ophthalmol*. [Review / Meta-Analysis]
Marta A (2025). [PMID: 39939324](https://pubmed.ncbi.nlm.nih.gov/39939324/). *NPJ Genom Med*. [Epidemiology / Natural History]
Seraj H (2025). [PMID: 41023504](https://pubmed.ncbi.nlm.nih.gov/41023504/). *Doc Ophthalmol*. [Case Report / Case Series]
AI-curated news mentioning pigmented paravenous retinochoroidal atrophy
Updated Mar 17, 2026
A systematic review on pigmented paravenous retinochoroidal atrophy (PPRCA) has been published, providing insights into its clinical features and potential management strategies. This review consolidates existing knowledge and may guide future research directions.