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retinitis pigmentosa 13 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 13

MONDO:0010806

Also known as:PRPF8 retinitis pigmentosaRP13retinitis pigmentosa caused by mutation in PRPF8

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene.

GeneticsAutosomal dominant · PRPF8 (chr 17)

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 very common findings: Nyctalopia; and common findings: Cystoid macular edema and Subcapsular cataract. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	5	Optic disc drusen, Cystoid macular edema, Retinal degeneration

Genetic Landscape

PRPF8 function has not been fully characterized.

Retinitis pigmentosa 13 is associated with mutations in the PRPF8 gene on chromosome 17.

Diagnosis

Genetic testing for PRPF8 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 13 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 very common feature, 2 common 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 13.

42 publications have been identified in PubMed for retinitis pigmentosa 13. Research spans Basic Science / Preclinical (48%), Case Report / Case Series (17%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Laboratory research	20	48%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600059

GARD

Genetic and Rare Diseases Info Center

GARD:10388

Questions for Your Care Team

→Should I pursue genetic testing for PRPF8, and what would the results mean for my family?
→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 13

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 13

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