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retinitis pigmentosa 72 (RP72) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 72

MONDO:0014653

Also known as:RP72ZNF408 retinitis pigmentosaretinitis pigmentosa caused by mutation in ZNF408

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene.

GeneticsAutosomal recessive · ZNF408 (chr 11)

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: Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Nyctalopia, and Reduced visual acuity and others; and common findings: High myopia, Peripapillary atrophy, and Photophobia.

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

Genetic Landscape

ZNF408 function has not been fully characterized.

Retinitis pigmentosa 72 is associated with mutations in the ZNF408 gene on chromosome 11.

Diagnosis

Genetic testing for ZNF408 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 72 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 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 72.

43 publications have been identified in PubMed for retinitis pigmentosa 72. Research spans Epidemiology / Natural History (33%), Basic Science / Preclinical (21%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Disease patterns and progression	14	33%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616469

GARD

Genetic and Rare Diseases Info Center

GARD:16119

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 72

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 72

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