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GTR Home > Conditions/Phenotypes > Retinitis pigmentosa 78

Retinitis pigmentosa 78

Summary

Retinitis pigmentosa-78 (RP78) is an autosomal recessive retinal dystrophy that presents in the third to fourth decade with central visual disturbance, visual field defects, and nyctalopia. Fundus examination reveals optic disc pallor, attenuated retinal vessels, and irregular midperipheral intraretinal pigment migration (Arno et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from OMIM]

Available tests

8 tests are in the database for this condition.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: P114-RhoGEF, RP78, SA-RhoGEF, p114RhoGEF, ARHGEF18
    Summary: Rho/Rac guanine nucleotide exchange factor 18

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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