Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

retinitis pigmentosa 33 (RP33) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 33

MONDO:0012477

Also known as:RP33SNRNP200 retinitis pigmentosaretinitis pigmentosa caused by mutation in SNRNP200

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene.

GeneticsAutosomal dominant · SNRNP200 (chr 2)

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: Bone spicule pigmentation of the retina, Nyctalopia, Visual impairment, and Optic disc pallor and 3 more.

Organ System	Phenotype Count	Example Features
Eyes	4	Visual impairment, Optic disc pallor, Attenuation of retinal blood vessels

Genetic Landscape

SNRNP200 function has not been fully characterized.

Retinitis pigmentosa 33 is associated with mutations in the SNRNP200 gene on chromosome 2.

Diagnosis

Genetic testing for SNRNP200 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 33 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 33.

80 publications have been identified in PubMed for retinitis pigmentosa 33. Research spans Epidemiology / Natural History (29%), Basic Science / Preclinical (21%), and Case Report / Case Series (13%).

Research Type	Count	% of Total
Disease patterns and progression	23	29%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610359

GARD

Genetic and Rare Diseases Info Center

GARD:10400

Questions for Your Care Team

→Should I pursue genetic testing for SNRNP200, 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

Kisho

retinitis pigmentosa 33

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

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 33

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

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