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retinitis pigmentosa 54 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 54

MONDO:0013263

Also known as:PCARE retinitis pigmentosaRP54retinitis pigmentosa caused by mutation in PCARE

Overview

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

GeneticsAutosomal recessive · PCARE (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, Fundus atrophy, Nyctalopia, and Visual impairment and 3 more.

Organ System	Phenotype Count	Example Features
Eyes	2	Visual impairment, Attenuation of retinal blood vessels
Bones and joints

Genetic Landscape

PCARE function has not been fully characterized.

Retinitis pigmentosa 54 is associated with mutations in the PCARE gene on chromosome 2.

Diagnosis

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

Biomarker and diagnostic research for retinitis pigmentosa 54 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 54.

43 publications have been identified in PubMed for retinitis pigmentosa 54. Research spans Epidemiology / Natural History (40%), Basic Science / Preclinical (19%), and Diagnostic / Biomarker (14%).

Research Type	Count	% of Total
Disease patterns and progression	17	40%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 12:31 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613428

GARD

Genetic and Rare Diseases Info Center

GARD:15662

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 54

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 54

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