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retinitis pigmentosa 25 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 25

MONDO:0011272

Also known as:EYS retinitis pigmentosaRP25retinitis pigmentosa caused by mutation in EYS

Overview

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

GeneticsAutosomal recessive · EYS (chr 6)

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 rarely findings: Posterior subcapsular cataract and Chorioretinal atrophy. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Optic disc pallor, Posterior subcapsular cataract, Attenuation of retinal blood vessels

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

EYS encodes EGF-like photoreceptor maintenance factor (3,165 aa). Required to maintain the integrity of photoreceptor cells. Highest expression in Testis (1.0 TPM) and Brain Cerebellum (0.3 TPM).

Retinitis pigmentosa 25 is associated with mutations in the EYS gene on chromosome 6.

The EYS protein participates in Essential pentosuria, Defective DCXR does not reduce L-xylulose to xylitol, and DCXR tetramer reduces L-xylulose to xylitol pathways.

EYS is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for retinitis pigmentosa 25 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 25.

43 publications have been identified in PubMed for retinitis pigmentosa 25. Research spans Epidemiology / Natural History (35%), Basic Science / Preclinical (21%), and Case Report / Case Series (16%).

Research Type	Count	% of Total
Disease patterns and progression	15	35%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:602772

GARD

Genetic and Rare Diseases Info Center

GARD:10384

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 25

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 25

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