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retinitis pigmentosa 40 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 40

MONDO:0013429

Also known as:PDE6B retinitis pigmentosaRP40retinitis pigmentosa caused by mutation in PDE6B

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene.

GeneticsAutosomal recessive · PDE6B (chr 4)

OnsetADULT

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: Bone spicule pigmentation of the retina, Nyctalopia, Cataract, and Abnormal light- and dark-adapted electroretinogram and others. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Cataract, Attenuation of retinal blood vessels

Genetic Landscape

PDE6B function has not been fully characterized.

Retinitis pigmentosa 40 is associated with mutations in the PDE6B gene on chromosome 4.

Diagnosis

Genetic testing for PDE6B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 40 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 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 40.

134 publications have been identified in PubMed for retinitis pigmentosa 40. Kisho has analyzed 105 by research type. Research spans Epidemiology / Natural History (35%), Basic Science / Preclinical (21%), and Case Report / Case Series (11%).

Research Type	Count	% of Total
Disease patterns and progression	37	35%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613801

GARD

Genetic and Rare Diseases Info Center

GARD:15709

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?

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retinitis pigmentosa 40

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 40

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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