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GTR Home > Conditions/Phenotypes > Retinitis pigmentosa 95

Retinitis pigmentosa 95

Summary

Retinitis pigmentosa-95 (RP95) is characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation. Patients experience night blindness, and visual fields are restricted to approximately 10 degrees, with visual acuity ranging from normal to hand movement only. Age at onset of symptoms varies from childhood to the fifth decade of life (Van de Sompele et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ARMD6, CORD11, QRX, RAXL1, RP95, RAX2
    Summary: retina and anterior neural fold homeobox 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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