retinitis pigmentosa, type 18

retinitis pigmentosa, type 18

An autosomal dominant form of retinitis pigmentosa (OMIM:601414) characterised by degeneration of retinal photoreceptor cells. If first appears clinically as night vision blindness and loss of midperipheral visual field, followed by loss of far peripheral and eventually central vision.

Molecular pathology
Defects of PRPF3, which encodes a protein involved in pre-mRNA splicing, cause retinitis pigmentosa type 18.
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