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retinitis pigmentosa 76 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 76

MONDO:0014929

Also known as:POMGNT1 retinitis pigmentosaRP76retinitis pigmentosa 76; RP76

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene.

GeneticsAutosomal recessive · POMGNT1 (chr 1)

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, Nyctalopia, Reduced visual acuity, and Retinal thinning on OCT; and common findings: Bone spicule pigmentation of the retina and Peripapillary atrophy. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Hyperautofluorescent macular lesion, Cystoid macular edema, Retinal thinning on OCT

Genetic Landscape

POMGNT1 function has not been fully characterized.

Retinitis pigmentosa 76 is associated with mutations in the POMGNT1 gene on chromosome 1.

Diagnosis

Genetic testing for POMGNT1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 76 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features, 2 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 76.

31 publications have been identified in PubMed for retinitis pigmentosa 76. Research spans Epidemiology / Natural History (39%), Diagnostic / Biomarker (13%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Disease patterns and progression	12	39%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617123

GARD

Genetic and Rare Diseases Info Center

GARD:16196

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 76

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 76

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