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retinitis pigmentosa 39 (RP39) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 39

MONDO:0013436

Also known as:RP39USH2A retinitis pigmentosaretinitis pigmentosa caused by mutation in USH2A

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Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene.

GeneticsAutosomal recessive · USH2A (chr 1)

Clinical Trials1 registered

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Bone spicule pigmentation of the retina, Visual field defect, Visual impairment, and Rod-cone dystrophy and 2 more.

Organ System	Phenotype Count	Example Features
Eyes	2	Visual impairment, Attenuation of retinal blood vessels

Genetic Landscape

USH2A function has not been fully characterized.

Retinitis pigmentosa 39 is associated with mutations in the USH2A gene on chromosome 1.

Diagnosis

Genetic testing for USH2A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 39 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

151 publications have been identified in PubMed for retinitis pigmentosa 39. Kisho has analyzed 90 by research type. Research spans Epidemiology / Natural History (32%), Basic Science / Preclinical (23%), and Diagnostic / Biomarker (11%).

Research Type	Count	% of Total
Disease patterns and progression	29

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 7:17 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613809

GARD

Genetic and Rare Diseases Info Center

GARD:15715

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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retinitis pigmentosa 39

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

retinitis pigmentosa 39

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications