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retinitis pigmentosa 68 (RP68) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 68

MONDO:0014323

Also known as:RP68SLC7A14 retinitis pigmentosaretinitis pigmentosa caused by mutation in SLC7A14

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene.

GeneticsAutosomal recessive · SLC7A14 (chr 3)

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, Visual field defect, and Reduced visual acuity and others.

Organ System	Phenotype Count	Example Features
Bones and joints	1	Bone spicule pigmentation of the retina

Genetic Landscape

SLC7A14 function has not been fully characterized.

Retinitis pigmentosa 68 is associated with mutations in the SLC7A14 gene on chromosome 3.

Diagnosis

Genetic testing for SLC7A14 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 68 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 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 68.

48 publications have been identified in PubMed for retinitis pigmentosa 68. Research spans Epidemiology / Natural History (42%), Basic Science / Preclinical (21%), and Diagnostic / Biomarker (15%).

Research Type	Count	% of Total
Disease patterns and progression	20	42%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 11:47 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615725

GARD

Genetic and Rare Diseases Info Center

GARD:16004

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 68

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 68

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