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GTR Home > Conditions/Phenotypes > Retinitis pigmentosa 93

Retinitis pigmentosa 93

Summary

Retinitis pigmentosa-93 (RP93) is characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia (Mejecase et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from OMIM]

Available tests

5 tests are in the database for this condition.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COACH2, JBTS9, MKS6, RP93, CC2D2A
    Summary: coiled-coil and C2 domain containing 2A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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