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GTR Home > Conditions/Phenotypes > Retinitis pigmentosa 90

Retinitis pigmentosa 90

Summary

Retinitis pigmentosa-90 (RP90) is characterized by early-onset night blindness, within the first decade of life. Patients exhibit other typical features of RP, including retinal vessel attenuation, optic disc pallor, and retinal pigment epithelium (RPE) atrophy and pigmentation abnormalities. Macular pseudocoloboma and cystoid macular edema have also been observed (Pierrache et al., 2017). For a discussion of genetic heterogeneity of RP, see 268000. [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: RP90, IDH3A
    Summary: isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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