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retinitis pigmentosa 51 (RP51) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 51

MONDO:0013274

Also known as:RP51TTC8 retinitis pigmentosaretinitis pigmentosa caused by mutation in TTC8

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene.

GeneticsAutosomal recessive · TTC8 (chr 14)

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, Reduced visual acuity, Rod-cone dystrophy, and Attenuation of retinal blood vessels. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Macular degeneration, Visual impairment, Attenuation of retinal blood vessels

Genetic Landscape

TTC8 function has not been fully characterized.

Retinitis pigmentosa 51 is associated with mutations in the TTC8 gene on chromosome 14.

Diagnosis

Genetic testing for TTC8 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 51 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 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 51.

52 publications have been identified in PubMed for retinitis pigmentosa 51. Research spans Epidemiology / Natural History (37%), Basic Science / Preclinical (29%), and Case Report / Case Series (17%).

Research Type	Count	% of Total
Disease patterns and progression	19	37%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613464

GARD

Genetic and Rare Diseases Info Center

GARD:15665

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 51

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 51

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