retinitis pigmentosa type 31

retinitis pigmentosa type 31

An autosomal dominant condition (OMIM:609923) 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 TOPORS, which encodes an E3 ubiquitin-protein ligase and an E3 SUMO1-protein ligase.
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