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retinitis pigmentosa 70 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 70

MONDO:0014400

Also known as:PRPF4 retinitis pigmentosaRP70retinitis pigmentosa caused by mutation in PRPF4

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene.

GeneticsAutosomal dominant · PRPF4 (chr 9)

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: Retinal degeneration, Reduced visual acuity, and Rod-cone dystrophy; and very common findings: Constriction of peripheral visual field, Nyctalopia, Macular degeneration, and Optic disc pallor and others.

Organ System	Phenotype Count	Example Features
Eyes	4	Macular degeneration, Retinal degeneration, Optic disc pallor

Genetic Landscape

PRPF4 function has not been fully characterized.

Retinitis pigmentosa 70 is associated with mutations in the PRPF4 gene on chromosome 9.

Diagnosis

Genetic testing for PRPF4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 70 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 5 very 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 70.

46 publications have been identified in PubMed for retinitis pigmentosa 70. Research spans Epidemiology / Natural History (30%), Basic Science / Preclinical (22%), and Review / Meta-Analysis (20%).

Research Type	Count	% of Total
Disease patterns and progression	14	30%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:48 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615922

GARD

Genetic and Rare Diseases Info Center

GARD:16032

Questions for Your Care Team

→Should I pursue genetic testing for PRPF4, 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 70

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 70

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