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GTR Home > Conditions/Phenotypes > Retinitis pigmentosa

Retinitis pigmentosa

Synonyms
Tapetoretinal degeneration
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Mitochondrial inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)

Summary

Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people (Veltel et al., 2008). Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. Upon examination, patients have decreased visual acuity, constricted visual fields, dyschromatopsia (tritanopic; see 190900), and the classic fundus appearance with dark pigmentary clumps in the midperiphery and perivenous areas ('bone spicules'), attenuated retinal vessels, cystoid macular edema, fine pigmented vitreous cells, and waxy optic disc pallor. RP is associated with posterior subcapsular cataracts in 39 to 72% of patients, high myopia, astigmatism, keratoconus, and mild hearing loss in 30% of patients (excluding patients with Usher syndrome; see 276900). Fifty percent of female carriers of X-linked RP have a golden reflex in the posterior pole (summary by Kaiser et al., 2004). Juvenile Retinitis Pigmentosa Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis (see 204000), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Autosomal recessive forms of juvenile retinitis pigmentosa can be caused by mutation in the SPATA7 (609868), LRAT (604863), and TULP1 (602280) genes (see LCA3, 604232, LCA14, 613341, and LCA15, 613843, respectively). An autosomal dominant form of juvenile retinitis pigmentosa (see 604393) is caused by mutation in the AIPL1 gene (604392). [from OMIM]

Available tests

119 tests are in the database for this condition.

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Clinical tests (118 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: AIPL2, LCA4, AIPL1
    Summary: aryl hydrocarbon receptor interacting protein like 1

  • Also known as: BBS3, RP55, ARL6
    Summary: ADP ribosylation factor like GTPase 6

  • Also known as: BBS21, C8orf37, CORD16, FAP418, MOT25, RP64, smalltalk, CFAP418
    Summary: cilia and flagella associated protein 418

  • Also known as: RP61, USH3, USH3A, CLRN1
    Summary: clarin 1

  • Also known as: CNCG, CNCG1, CNG-1, CNG1, RCNC1, RCNCa, RCNCalpha, RP49, CNGA1
    Summary: cyclic nucleotide gated channel subunit alpha 1

  • Also known as: CORD2, CRD, LCA7, OTX3, CRX
    Summary: cone-rod homeobox

  • Also known as: LCA14, LRAT
    Summary: lecithin retinol acyltransferase

  • Also known as: PDEG, RP57, PDE6G
    Summary: phosphodiesterase 6G

  • Also known as: D10S64, D10S65, D10S66, IRBP, RBPI, RP66, RBP3
    Summary: retinol binding protein 3

  • Also known as: ROM, ROSP1, RP7, TSPAN23, ROM1
    Summary: retinal outer segment membrane protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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