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RPGR: Its role in photoreceptor physiology, human disease, and future therapies

17 Jun 2015

Abstract excerpt

Mammalian photoreceptors contain specialised connecting cilia that connect the inner (IS) to the outer segments (OS). Dysfunction of the connecting cilia due to mutations in ciliary proteins are a common cause of the inherited retinal dystrophy retinitis pigmentosa (RP). Mutations affecting the Retinitis Pigmentosa GTPase Regulator (RPGR) protein is one such cause, affecting 10-20% of all people with RP and the...

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PMID: 26093275
DOI: 10.1016/j.exer.2015.06.007

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