retinitis pigmentosa type 14

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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.
References in periodicals archive ?
Stradalli is Team Colavita/Fine Cooking's official bicycle sponsor and has supplied Prinner with a Stradalli RP14 Carbon fiber road bike and a Phantom II time trial bike.
Assim, foram identificados, em funcao das camadas de coleta, da seguinte forma: a) para a camada de 0-0,10 m, DS1, UG1, UV1 e RP1; b) para a camada de 0,10-0,20 m, DS2, UG2, UV2 e RP2; c) para a camada de 0,20-0,30 m, DS3, UG3, UV3 e RP3; e d) para a camada de 0,30-0,40 m, DS4, UG4, UV4 e RP14.