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retinitis pigmentosa type 12 (RP12)
Pathology:
- preserved paraarteriolar retinal pigment epithelium
Genetics:
1) autosomal recessive
2) associated with defects in CRB1 gene
Clinical manifestations:
1) severe form of retinitis pigmentosa
2) occurs from early childhood
3) progressive visual field loss with severe visual impairment before age 20
Database Correlations
OMIM 600105
References
OMIM :accession 600105