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retinitis pigmentosa 41 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 41

MONDO:0012796

Also known as:PROM1 retinitis pigmentosaRP41retinitis pigmentosa caused by mutation in PROM1

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene.

GeneticsAutosomal recessive · PROM1 (chr 4)

OnsetCHILDHOOD

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: Bone spicule pigmentation of the retina, Severely reduced visual acuity, Macular degeneration, and Optic disc pallor and others; and very common findings: Nystagmus. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	5	Pigmentary retinopathy, Nystagmus, Macular degeneration

Genetic Landscape

PROM1 function has not been fully characterized.

Retinitis pigmentosa 41 is associated with mutations in the PROM1 gene on chromosome 4.

Diagnosis

Genetic testing for PROM1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 1 very common feature.

Data assembled from 4 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:612095

GARD

Genetic and Rare Diseases Info Center

GARD:10379

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 41

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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