retinitis pigmentosa type 39
retinitis pigmentosa type 39
An autosomal recessive condition (OMIM:613809) 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 USH2A, which encodes a basement membrane protein that plays key roles in development and homeostasis of the inner ear and retina.