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retinitis pigmentosa 66 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 66

MONDO:0014093

Also known as:RBP3 retinitis pigmentosaRP66retinitis pigmentosa caused by mutation in RBP3

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene.

GeneticsAutosomal recessive · RBP3 (chr 10)

OnsetADULT

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, Reduced visual acuity, and Visual impairment and others; and common findings: Nyctalopia and Optic disc pallor. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Visual impairment, Optic disc pallor, Posterior subcapsular cataract

Genetic Landscape

RBP3 function has not been fully characterized.

Retinitis pigmentosa 66 is associated with mutations in the RBP3 gene on chromosome 10.

Diagnosis

Genetic testing for RBP3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 66 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present features, 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 66.

76 publications have been identified in PubMed for retinitis pigmentosa 66. Research spans Basic Science / Preclinical (34%), Epidemiology / Natural History (28%), and Gene Therapy / Novel Therapeutics (11%).

Research Type	Count	% of Total
Laboratory research	26	34%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615233

GARD

Genetic and Rare Diseases Info Center

GARD:15923

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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retinitis pigmentosa 66

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 66

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