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retinitis pigmentosa 2 (RP2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 2

MONDO:0010723

Also known as:RP2RP2 retinitis pigmentosaretinitis pigmentosa caused by mutation in RP2

Find Clinical TrialsTrials

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene.

GeneticsX-linked · RP2 (chr X)

Clinical Trials1 registered · 1 recruiting

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: Myopia; and common findings: Fundus atrophy, High myopia, and Central scotoma. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Pigmentary retinopathy, Cataract
Muscles

Genetic Landscape

RP2 function has not been fully characterized.

Retinitis pigmentosa 2 is associated with mutations in the RP2 gene on chromosome X.

Diagnosis

Genetic testing for RP2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

11 publications have been identified in PubMed for retinitis pigmentosa 2. Research spans Case Report / Case Series (36%), Basic Science / Preclinical (36%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Patient case studies	4	36%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:312600

GARD

Genetic and Rare Diseases Info Center

GARD:10380

Questions for Your Care Team

→Should female family members consider carrier screening for RP2?
→Are any of the 1 active clinical trial a good fit for my situation?
→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 2

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 2

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