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retinitis pigmentosa 43 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 43

MONDO:0013437

Also known as:PDE6A retinitis pigmentosaRP43retinitis pigmentosa caused by mutation in PDE6A

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Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene.

GeneticsAutosomal recessive · PDE6A (chr 5)

OnsetJUVENILE

Clinical Trials1 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 always present findings: Bone spicule pigmentation of the retina, Nyctalopia, Pigmentary retinopathy, and Visual impairment and others; and common findings: Posterior subcapsular cataract. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	5	Pigmentary retinopathy, Visual impairment, Optic disc pallor

Genetic Landscape

PDE6A function has not been fully characterized.

Retinitis pigmentosa 43 is associated with mutations in the PDE6A gene on chromosome 5.

Diagnosis

Genetic testing for PDE6A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 43 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 always present features, 1 common feature.

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.

1 clinical trial registered. Interventions under study include drug therapy. Pipeline includes 1 PHASE1. Research is primarily sponsored by academic and government institutions.

80 publications have been identified in PubMed for retinitis pigmentosa 43. Research spans Epidemiology / Natural History (24%), Gene Therapy / Novel Therapeutics (19%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Disease patterns and progression	19

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 5:36 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613810

GARD

Genetic and Rare Diseases Info Center

GARD:15716

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→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 43

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 43

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