Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

retinitis pigmentosa 58 (RP58) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 58

MONDO:0013328

Also known as:RP58ZNF513 retinitis pigmentosaretinitis pigmentosa caused by mutation in ZNF513

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene.

GeneticsAutosomal recessive · ZNF513 (chr 2)

OnsetJUVENILE

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 always present findings: Nyctalopia, Macular degeneration, Severely reduced visual acuity, and Abnormal light- and dark-adapted electroretinogram and others. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Macular degeneration, Optic disc pallor, Attenuation of retinal blood vessels

Genetic Landscape

ZNF513 function has not been fully characterized.

Retinitis pigmentosa 58 is associated with mutations in the ZNF513 gene on chromosome 2.

Diagnosis

Genetic testing for ZNF513 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 58 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 always present features.

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.

No clinical trials have been registered for retinitis pigmentosa 58.

46 publications have been identified in PubMed for retinitis pigmentosa 58. Research spans Epidemiology / Natural History (37%), Basic Science / Preclinical (20%), and Diagnostic / Biomarker (15%).

Research Type	Count	% of Total
Disease patterns and progression	17	37%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613617

GARD

Genetic and Rare Diseases Info Center

GARD:15682

Questions for Your Care Team

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

← Back to All Diseases

Kisho

retinitis pigmentosa 58

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

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 58

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

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