retinitis pigmentosa type 33

retinitis pigmentosa type 33

An autosomal dominant condition (OMIM:610359) characterised by retinal photoreceptor cell degeneration, night blindness and loss of midperipheral visual field; with time, far peripheral vision and eventually central vision are also lost.
Molecular pathology
Caused by defects of SNRNP200, which encodes a protein of the DEXH-box family of putative RNA helicases involved in RNA splicing.