Features include always present findings: Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Optic disc pallor, and Attenuation of retinal blood vessels; and very common findings: Nyctalopia and Reduced visual acuity. 10 total HPO annotations.

RP1 function has not been fully characterized.

Retinitis pigmentosa 1 is associated with mutations in the RP1 gene on chromosome 8.

Genetic testing for RP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 1 has been reported in the published literature.

No approved treatments are currently available for retinitis pigmentosa 1. An additional 2 compounds hold orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for retinitis pigmentosa 1, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for retinitis pigmentosa 1. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Phenotype severity distribution: 4 always present features, 2 very common features.

1 clinical trial registered. Interventions under study include drug therapy. Pipeline includes 1 PHASE1. Research is primarily sponsored by academic and government institutions.

155 publications have been identified in PubMed for retinitis pigmentosa 1. Research spans Basic Science / Preclinical (37%), Epidemiology / Natural History (19%), and Case Report / Case Series (16%).