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retinitis pigmentosa 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 4

MONDO:0013395

Also known as:RHO retinitis pigmentosaRP4retinitis pigmentosa 4, autosomal dominant or recessive

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Overview

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

GeneticsAutosomal recessive, Autosomal dominant · RHO (chr 3)

OnsetCHILDHOOD, ADULT

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, Visual field defect, and Reduced visual acuity and others. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	5	Pigmentary retinopathy, Cataract, Blindness

Genetic Landscape

RHO function has not been fully characterized.

Retinitis pigmentosa 4 is associated with mutations in the RHO gene on chromosome 3.

Diagnosis

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

Biomarker and diagnostic research for retinitis pigmentosa 4 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 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.

1 clinical trial registered. Interventions under study include drug therapy. Pipeline includes 1 PHASE1. Research is primarily industry-sponsored.

183 publications have been identified in PubMed for retinitis pigmentosa 4. Research spans Basic Science / Preclinical (38%), Review / Meta-Analysis (21%), and Gene Therapy / Novel Therapeutics (16%).

Research Type	Count	% of Total
Laboratory research	59	38%

Data assembled from 6 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:613731

GARD

Genetic and Rare Diseases Info Center

GARD:10405

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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retinitis pigmentosa 4

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 4

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