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retinitis pigmentosa 47 (RP47) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 47

MONDO:0013407

Also known as:RP47SAG retinitis pigmentosaretinitis pigmentosa caused by mutation in SAG

Overview

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

GeneticsAutosomal recessive · SAG (chr 2)

Clinical Presentation

Features include: Nyctalopia, Pigmentary retinopathy, Visual impairment, and Rod-cone dystrophy and 2 more.

Organ System	Phenotype Count	Example Features
Eyes	2	Pigmentary retinopathy, Visual impairment
Muscles	1	Chorioretinal atrophy

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Genetic Landscape

SAG function has not been fully characterized.

Retinitis pigmentosa 47 is associated with mutations in the SAG gene on chromosome 2.

Diagnosis

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

Biomarker and diagnostic research for retinitis pigmentosa 47 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 47.

71 publications have been identified in PubMed for retinitis pigmentosa 47. Research spans Case Report / Case Series (23%), Review / Meta-Analysis (18%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Patient case studies	16	23%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613758

GARD

Genetic and Rare Diseases Info Center

GARD:15702

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 47

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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