Features include always present findings: Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, and Rod-cone dystrophy and others; and very common findings: Constriction of peripheral visual field. 10 total HPO annotations.

ARL3 encodes ARF like GTPase 3 (182 aa). Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). Highest expression in Brain Cerebellar Hemisphere (57.2 TPM) and Brain Cerebellum (51.7 TPM).

Retinitis pigmentosa 83 is associated with mutations in the ARL3 gene on chromosome 10.

The ARL3 protein participates in RP2 activates the GTPase activity of ARL3, RP2:ARL3:GDP:UNC119B dissociates, and Myristoylated NPHP3 translocates into the ciliary membrane pathways.

ARL3 is classified as a druggable target with score 7.5.

Genetic testing for ARL3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 83 has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 1 very common feature, 2 common features.

No clinical trials have been registered for retinitis pigmentosa 83.

44 publications have been identified in PubMed for retinitis pigmentosa 83. Research spans Diagnostic / Biomarker (18%), Case Report / Case Series (18%), and Basic Science / Preclinical (18%).