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.

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