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retinitis pigmentosa 36 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 36

MONDO:0012523

Also known as:PRCD retinitis pigmentosaRP36retinitis pigmentosa caused by mutation in PRCD

Overview

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

GeneticsAutosomal recessive · PRCD (chr 17)

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: Undetectable electroretinogram, Bone spicule pigmentation of the retina, Macular degeneration, and Rod-cone dystrophy and 2 more.

Organ System	Phenotype Count	Example Features
Eyes	3	Macular degeneration, Optic disc pallor, Attenuation of retinal blood vessels

Genetic Landscape

PRCD function has not been fully characterized.

Retinitis pigmentosa 36 is associated with mutations in the PRCD gene on chromosome 17.

Diagnosis

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

Biomarker and diagnostic research for retinitis pigmentosa 36 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 36.

69 publications have been identified in PubMed for retinitis pigmentosa 36. Research spans Epidemiology / Natural History (28%), Basic Science / Preclinical (25%), and Case Report / Case Series (16%).

Research Type	Count	% of Total
Disease patterns and progression	17	28%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:04 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610599

GARD

Genetic and Rare Diseases Info Center

GARD:10403

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 36

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 36

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