Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

retinitis pigmentosa 45 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 45

MONDO:0013413

Also known as:CNGB1 retinitis pigmentosaRP45retinitis pigmentosa caused by mutation in CNGB1

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene.

GeneticsAutosomal recessive · CNGB1 (chr 16)

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, Nyctalopia, Peripheral visual field loss, and Rod-cone dystrophy and others; and sometimes findings: Macular degeneration.

Organ System	Phenotype Count	Example Features
Bones and joints	1	Bone spicule pigmentation of the retina

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.

CNGB1 encodes cyclic nucleotide gated channel subunit beta 1 (1,251 aa). Pore-forming subunit of the rod cyclic nucleotide-gated channel. Mediates rod photoresponses at dim light converting transient changes in intracellular cGMP levels into electrical signals. Highest expression in Brain Hypothalamus (6.1 TPM) and Brain Cortex (3.1 TPM).

Retinitis pigmentosa 45 is associated with mutations in the CNGB1 gene on chromosome 16.

The CNGB1 protein participates in VxPx-containing ciliary membrane proteins and cGMP:CNG transports Na+ and Ca2+ into the rod outer segment pathways.

CNGB1 is classified as a druggable target (Druggable Genome, Ion Channel, and Transporter categories) with score 26.1.

Diagnosis

Genetic testing for CNGB1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 45 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 always present features.

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 45.

108 publications have been identified in PubMed for retinitis pigmentosa 45. Research spans Basic Science / Preclinical (24%), Case Report / Case Series (19%), and Clinical Trial Publication (19%).

Research Type	Count	% of Total
Laboratory research	26	24%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613767

GARD

Genetic and Rare Diseases Info Center

GARD:15704

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?

← Back to All Diseases

Kisho

retinitis pigmentosa 45

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

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 45

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

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