retinitis pigmentosa 18

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retinitis pigmentosa 182016-12-03T08:04:26+00:00

retinitis pigmentosa 18 

OPHTHALMOLOGY

An autosomal dominant form (OMIM:601414) of retinitis pigmentosa*.

Retinitis pigmentosa is characterised by degeneration of retinal photoreceptor cell. Ii 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 18.  

References http://www.uniprot.org/uniprot/O43395 

http://www.omim.org/entry/601414

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