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retinitis pigmentosa 31 (RP31) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 31

MONDO:0012367

Also known as:RP31TOPORS retinitis pigmentosaretinitis pigmentosa caused by mutation in TOPORS

Overview

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

GeneticsAutosomal dominant · TOPORS (chr 9)

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 common findings: Visual field defect and Abnormal electroretinogram. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels
Muscles

Genetic Landscape

TOPORS function has not been fully characterized.

Retinitis pigmentosa 31 is associated with mutations in the TOPORS gene on chromosome 9.

Diagnosis

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

Biomarker and diagnostic research for retinitis pigmentosa 31 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 common 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 31.

90 publications have been identified in PubMed for retinitis pigmentosa 31. Research spans Epidemiology / Natural History (27%), Basic Science / Preclinical (21%), and Gene Therapy / Novel Therapeutics (13%).

Research Type	Count	% of Total
Disease patterns and progression	24	27%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609923

GARD

Genetic and Rare Diseases Info Center

GARD:10396

Questions for Your Care Team

→Should I pursue genetic testing for TOPORS, and what would the results mean for my family?
→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 31

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 31

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