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pigmented paravenous chorioretinal atrophy (PPCRA)
Pathology:
1) retinal degeneration
2) accumulation of pigmentation along retinal veins
Genetics:
1) autosomal dominant, with variable expressivity
2) ales are more likely to exhibit a severe phenotype
3) females may remain virtually asymptomatic
4) mutation in CRB1 gene
Related
crumbs homolog 1 (CRB1)
General
genetic disease of the eye
Database Correlations
OMIM 172870
References
OMIM :accession 172870