retinitis pigmentosa type 31

(redirected from RP31)

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.
References in periodicals archive ?
al T37 RP33 Bryce and Memon T38 to T42 RP31 Korel et.
New Auto-borrows functionality supports the receipt of reports, in particular the RP31 report from Euroclear, on a schedule defined by the client.