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retinitis pigmentosa 60 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 60

MONDO:0013516

Also known as:PRPF6 retinitis pigmentosaRP60retinitis pigmentosa caused by mutation in PRPF6

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene.

GeneticsAutosomal dominant · PRPF6 (chr 20)

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: Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Nyctalopia, and Reduced visual acuity and others; and common findings: Posterior subcapsular cataract and Optic disc pallor.

Organ System	Phenotype Count	Example Features
Eyes	5	Visual impairment, Posterior subcapsular cataract, Optic disc pallor

Genetic Landscape

PRPF6 function has not been fully characterized.

Retinitis pigmentosa 60 is associated with mutations in the PRPF6 gene on chromosome 20.

Diagnosis

Genetic testing for PRPF6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 60 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 always present features, 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 60.

82 publications have been identified in PubMed for retinitis pigmentosa 60. Research spans Epidemiology / Natural History (39%), Case Report / Case Series (18%), and Diagnostic / Biomarker (13%).

Research Type	Count	% of Total
Disease patterns and progression	32	39%

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:613983

GARD

Genetic and Rare Diseases Info Center

GARD:15738

Questions for Your Care Team

→Should I pursue genetic testing for PRPF6, 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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Kisho

retinitis pigmentosa 60

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 60

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