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retinitis pigmentosa 61 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 61

MONDO:0013610

Also known as:CLRN1 retinitis pigmentosaRP61retinitis pigmentosa caused by mutation in CLRN1

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene.

GeneticsAutosomal recessive · CLRN1 (chr 3)

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, Nyctalopia, Visual impairment, and Undetectable light- and dark-adapted electroretinogram and 2 more.

Organ System	Phenotype Count	Example Features
Eyes	2	Visual impairment, 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.

CLRN1 encodes clarin 1 (232 aa). May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina Highest expression in Adrenal Gland (2.3 TPM) and Testis (0.4 TPM).

Retinitis pigmentosa 61 is associated with mutations in the CLRN1 gene on chromosome 3.

CLRN1 is classified as a druggable target (Transporter category) with score 0.0.

Diagnosis

Genetic testing for CLRN1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 61 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 61.

61 publications have been identified in PubMed for retinitis pigmentosa 61. Research spans Epidemiology / Natural History (31%), Basic Science / Preclinical (30%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Disease patterns and progression	19	31%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:36 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614180

GARD

Genetic and Rare Diseases Info Center

GARD:15766

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 61

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 61

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