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retinitis pigmentosa 69 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 69

MONDO:0014345

Also known as:KIZ retinitis pigmentosaRP69retinitis pigmentosa caused by mutation in KIZ

Overview

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

GeneticsAutosomal recessive · KIZ (chr 20)

OnsetMIDDLE_AGE

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: Perifoveal hypoautofluorescence, Nyctalopia, Pigmentary retinopathy, and Rod-cone dystrophy; and common findings: Constriction of peripheral visual field, Undetectable electroretinogram, and Reduced visual acuity.

Organ System	Phenotype Count	Example Features
Eyes	1	Pigmentary retinopathy

Age of onset: middle age.

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.

KIZ encodes kizuna centrosomal protein (673 aa). Centrosomal protein required for establishing a robust mitotic centrosome architecture that can endure the forces that converge on the centrosomes during spindle formation. Highest expression in Colon Sigmoid (60.4 TPM) and Cervix Endocervix (50.2 TPM).

Retinitis pigmentosa 69 is associated with mutations in the KIZ gene on chromosome 20.

KIZ is classified as a druggable target with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for retinitis pigmentosa 69 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features, 3 common 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 69.

48 publications have been identified in PubMed for retinitis pigmentosa 69. Research spans Epidemiology / Natural History (44%), Basic Science / Preclinical (21%), and Diagnostic / Biomarker (13%).

Research Type	Count	% of Total
Disease patterns and progression	21	44%

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:615780

GARD

Genetic and Rare Diseases Info Center

GARD:16011

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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Kisho

retinitis pigmentosa 69

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 69

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