retinitis pigmentosa type 33
retinitis pigmentosa type 33An 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.
Caused by defects of SNRNP200, which encodes a protein of the DEXH-box family of putative RNA helicases involved in RNA splicing.
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