retinitis pigmentosa, type 7
retinitis pigmentosa, type 7
An autosomal dominant retinopathy (OMIM:608133) which leads to degeneration of retinal photoreceptor cells. It first manifests as night vision blindness and loss of midperipheral visual field, followed by loss of the far peripheral visual field and eventually central vision.Molecular pathology
Defects of PRPH2, which encodes peripherin 2, cause retinitis pigmentosa type 7.