Features include always present findings: Visual field defect and Reduced visual acuity; and very common findings: Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels, and Retinal pigment epithelial atrophy. 12 total HPO annotations.

IMPG2 encodes interphotoreceptor matrix proteoglycan 2 (1,241 aa). Chondroitin sulfate- and hyaluronan-binding proteoglycan involved in the organization of interphotoreceptor matrix; may participate in the maturation and maintenance of the light-sensitive photoreceptor outer segment. Highest expression in Fallopian Tube (0.8 TPM) and Kidney Medulla (0.7 TPM).

Retinitis pigmentosa 56 is associated with mutations in the IMPG2 gene on chromosome 3.

IMPG2 is classified as a druggable target (Druggable Genome category) with score 0.0.

Genetic testing for IMPG2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 56 has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 4 very common features, 1 common feature.

No clinical trials have been registered for retinitis pigmentosa 56.

38 publications have been identified in PubMed for retinitis pigmentosa 56. Research spans Epidemiology / Natural History (42%), Case Report / Case Series (18%), and Basic Science / Preclinical (16%).