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retinitis pigmentosa 77 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 77

MONDO:0015013

Also known as:REEP6 retinitis pigmentosaretinitis pigmentosa caused by mutation in REEP6retinitis pigmentosa type 77

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene.

GeneticsAutosomal recessive · REEP6 (chr 19)

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: Nyctalopia, Reduced visual acuity, Rod-cone dystrophy, and Attenuation of retinal blood vessels and others; and common findings: Constriction of peripheral visual field, Bone spicule pigmentation of the retina, and Posterior subcapsular cataract. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	4	Cystoid macular edema, Posterior subcapsular cataract, Attenuation of retinal blood vessels

Genetic Landscape

REEP6 function has not been fully characterized.

Retinitis pigmentosa 77 is associated with mutations in the REEP6 gene on chromosome 19.

Diagnosis

Genetic testing for REEP6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 77 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 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 77.

34 publications have been identified in PubMed for retinitis pigmentosa 77. Research spans Epidemiology / Natural History (41%), Diagnostic / Biomarker (21%), and Case Report / Case Series (15%).

Research Type	Count	% of Total
Disease patterns and progression	14	41%

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:617304

GARD

Genetic and Rare Diseases Info Center

GARD:16221

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 77

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 77

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