retinitis pigmentosa type 14

retinitis pigmentosa type 14

An autosomal recessive form (OMIM:600132) of retinitis pigmentosa characterised by degeneration of retinal photoreceptor cells. RP usually begins with night blindness and loss of midperipheral visual field, followed by loss of the far peripheral visual field and eventually central vision. 

Molecular pathology
Caused by defects in TULP1, which encodes a so-called tubby-like protein required for normal development of photoreceptor synapses, photoreceptor function and for long-term survival of photoreceptor cells.

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