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GTR Home > Conditions/Phenotypes > Retinitis pigmentosa 3

Retinitis pigmentosa 3

Synonyms
Choroidoretinal degeneration with retinal reflex in heterozygous women; Cone-rod degeneration X-linked; Retinitis pigmentosa 15

Summary

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). For a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from OMIM]

Available tests

57 tests are in the database for this condition.

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Clinical tests (57 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COD1, CORDX1, CRD, PCDX, RP15, RP3, XLRP3, orf15, RPGR
    Summary: retinitis pigmentosa GTPase regulator

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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