RP11 and RP13: unexpected gene loci

Retinitis pigmentosa (RP) is a heterogeneous disease causing degeneration of photoreceptors in the retina. Of 132 genetic loci mapped to human chromosomes, about half have been cloned and sequenced. Mutations in genes expressed specifically in the retina are thought to be responsible for autosomal dominant forms of RP. This dogma is now challenged by mutations in genes RP11 and RP13 that are expressed ubiquitously. The finding that dominant RP might be caused by genes encoding components of the spliceosome present in every cell of the human body indicates the existence of novel pathways leading to retinal cell death.