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retinitis pigmentosa 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 10

MONDO:0008379

Also known as:IMPDH1 retinitis pigmentosaRP10retinitis pigmentosa caused by mutation in IMPDH1

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Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene.

GeneticsAutosomal dominant · IMPDH1 (chr 7)

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (8 articles)

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: Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Nyctalopia, and Bull's eye maculopathy and others; and rarely findings: Posterior subcapsular cataract. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Optic disc pallor, Posterior subcapsular cataract, Attenuation of retinal blood vessels

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

IMPDH1 encodes inosine monophosphate dehydrogenase 1 (514 aa). Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Highest expression in Whole Blood (172.5 TPM) and Spleen (95.6 TPM).

Retinitis pigmentosa 10 is associated with mutations in the IMPDH1 gene on chromosome 7.

The IMPDH1 protein participates in IMP + H2O + NAD+ = XMP + NADH + H+ [IMPDH1,2] and IMPDH tetramers bind IMPDH inhibitors pathways.

IMPDH1 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 3.5.

Diagnosis

Genetic testing for IMPDH1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 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, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

8 publications have been identified in PubMed for retinitis pigmentosa 10. Research spans Basic Science / Preclinical (50%), Epidemiology / Natural History (25%), and Case Report / Case Series (13%).

Recent Publications

Barboni M (2026). [PMID: 41691573](https://pubmed.ncbi.nlm.nih.gov/41691573/). *Documenta ophthalmologica. Advances in ophthalmology*. [Basic Science / Preclinical]
Hazelwood JE (2026). [PMID: 41514076](https://pubmed.ncbi.nlm.nih.gov/41514076/). *Eye (London, England)*. [Epidemiology / Natural History]
Sattari S (2025). [PMID: 40643847](https://pubmed.ncbi.nlm.nih.gov/40643847/). *Molecular biotechnology*. [Basic Science / Preclinical]
Rutter KM (2025). [PMID: 40820815](https://pubmed.ncbi.nlm.nih.gov/40820815/). *Disease models & mechanisms*. [Gene Therapy / Novel Therapeutics]
Wang J (2024). [PMID: 38604988](https://pubmed.ncbi.nlm.nih.gov/38604988/). *Current eye research*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Oct 4, 2026, 6:17 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:180105

GARD

Genetic and Rare Diseases Info Center

GARD:15110

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Should I pursue genetic testing for IMPDH1, 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?

← Back to All Diseases

retinitis pigmentosa 10

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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