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retinitis pigmentosa 90 (RP90) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 90

MONDO:0033563

Also known as:RP90

Overview

GeneticsAutosomal recessive · IDH3A (chr 15)

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: Nyctalopia; and common findings: Constriction of peripheral visual field and Attenuation of retinal blood vessels. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	5	Strabismus, Hyperautofluorescent retinal lesion, Cystoid macular edema

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.

IDH3A encodes isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha (366 aa). Catalytic subunit of the enzyme which catalyzes the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. Highest expression in Cells EBV-transformed lymphocytes (41.9 TPM) and Heart Atrial Appendage (30.6 TPM).

Retinitis pigmentosa 90 is associated with mutations in the IDH3A gene on chromosome 15.

IDH3A is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for IDH3A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 90 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 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 90.

47 publications have been identified in PubMed for retinitis pigmentosa 90. Research spans Basic Science / Preclinical (30%), Epidemiology / Natural History (19%), and Case Report / Case Series (17%).

Research Type	Count	% of Total
Laboratory research	14	30%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619007

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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Kisho

retinitis pigmentosa 90

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

retinitis pigmentosa 90

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications