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retinitis pigmentosa 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 11

MONDO:0010828

Also known as:PRPF31 retinitis pigmentosaRP11retinitis pigmentosa caused by mutation in PRPF31

Find Clinical TrialsTrials

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene.

GeneticsAutosomal dominant · PRPF31 (chr 19)

Clinical Trials3 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 very common findings: Nyctalopia; and common findings: Perifoveal ring of hyperautofluorescence, Macular edema, and Optic disc pallor. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	5	Macular edema, Macular degeneration, Blindness

Genetic Landscape

PRPF31 function has not been fully characterized.

Retinitis pigmentosa 11 is associated with mutations in the PRPF31 gene on chromosome 19.

Diagnosis

Genetic testing for PRPF31 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 11 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 very common feature, 3 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.

3 clinical trials registered. Interventions under study include other interventions and drug therapy. Pipeline includes 1 PHASE1. Research is sponsored by a mix of industry and academic institutions.

30 publications have been identified in PubMed for retinitis pigmentosa 11. Research spans Basic Science / Preclinical (53%), Case Report / Case Series (10%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Laboratory research	16

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600138

GARD

Genetic and Rare Diseases Info Center

GARD:10383

Questions for Your Care Team

→Are any of the 3 active clinical trials a good fit for my situation?
→Should I pursue genetic testing for PRPF31, 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 11

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

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Recent Publications

retinitis pigmentosa 11

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