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retinitis pigmentosa 80 (RP80) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 80

MONDO:0054708

Also known as:RP80

Overview

GeneticsAutosomal recessive · IFT140 (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, and Progressive visual loss; and common findings: Macular atrophy and Attenuation of retinal blood vessels. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Blindness, Macular atrophy, 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.

IFT140 encodes intraflagellar transport 140 (1,462 aa). Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs). Highest expression in Thyroid (59.8 TPM) and Testis (47.9 TPM).

Retinitis pigmentosa 80 is associated with mutations in the IFT140 gene on chromosome 16.

IFT140 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for IFT140 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 80 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 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 80.

60 publications have been identified in PubMed for retinitis pigmentosa 80. Research spans Epidemiology / Natural History (33%), Gene Therapy / Novel Therapeutics (17%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Disease patterns and progression	20	33%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617781

GARD

Genetic and Rare Diseases Info Center

GARD:16252

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 80

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 80

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