" /> Retinitis pigmentosa 3 - CISMeF





Preferred Label : Retinitis pigmentosa 3;

Symbol : RP3;

CISMeF acronym : RP15; RP3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Retinitis pigmentosa 15; Cone-rod degeneration, X-linked; RP15; Choroidoretinal degeneration with retinal reflex in heterozygous women;

Description : X-linked retinitis pigmentosa (XLRP) is a severe form of inherited retinal degeneration that primarily affects the rod photoreceptors (Demirci et al., 2002). It typically causes an early-onset night blindness and loss of peripheral vision, often causing patients to become legally blind by the age of 30 to 40 years. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe RP (Jin et al., 2007). Mutation in the RPGR gene is believed to account for approximately 70% of XLRP (Vervoort et al., 2000).;

Prefixed ID : #300029;

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02/06/2024


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