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retinitis pigmentosa 44 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 44

MONDO:0013414

Also known as:RGR retinitis pigmentosaRP44retinitis pigmentosa caused by mutation in RGR

Overview

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

GeneticsAutosomal recessive, Autosomal dominant · RGR (chr 10)

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: Constriction of peripheral visual field, Visual impairment, Rod-cone dystrophy, and Attenuation of retinal blood vessels and 1 more.

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

Explore clinical features

Genetic Landscape

RGR function has not been fully characterized.

Retinitis pigmentosa 44 is associated with mutations in the RGR gene on chromosome 10.

Diagnosis

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

Biomarker and diagnostic research for retinitis pigmentosa 44 has been reported in the published literature.

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 44.

68 publications have been identified in PubMed for retinitis pigmentosa 44. Research spans Basic Science / Preclinical (29%), Epidemiology / Natural History (24%), and Diagnostic / Biomarker (13%).

Research Type	Count	% of Total
Laboratory research	20	29%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:36 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613769

GARD

Genetic and Rare Diseases Info Center

GARD:15705

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 44

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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