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retinitis pigmentosa 7 (RP 7) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 7

MONDO:0011974

Also known as:RP 7RP7retinitis pigmentosa type 7

Overview

A retinitis pigmentosain which the cause of the disease is a variation in the RDS gene (PRPH2). A digenic form of retinitis pigmentosa, resulting from a mutation in the RDS gene and a null mutation of the ROM1 gene, has also been reported.

GeneticsAutosomal recessive, Autosomal dominant · 2 genes (PRPH2, ROM1)

OnsetADULT

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 sometimes findings: Chorioretinal atrophy. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Pigmentary retinopathy, Adult-onset night blindness, Attenuation of retinal blood vessels
Muscles

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.

PRPH2

PRPH2 function has not been fully characterized.

Retinitis pigmentosa 7 is associated with mutations in the PRPH2 gene on chromosome 6.

ROM1

ROM1 function has not been fully characterized.

Retinitis pigmentosa 7 is associated with mutations in the ROM1 gene on chromosome 11.

Diagnosis

Genetic testing for PRPH2, ROM1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 7 has been reported in the published literature.

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 7.

50 publications have been identified in PubMed for retinitis pigmentosa 7. Research spans Basic Science / Preclinical (36%), Epidemiology / Natural History (26%), and Case Report / Case Series (18%).

Research Type	Count	% of Total
Laboratory research	18	36%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:32 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608133

GARD

Genetic and Rare Diseases Info Center

GARD:10386

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 7

Overview

Clinical Presentation

Genetic Landscape

PRPH2

ROM1

Diagnosis

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 7

Overview

Clinical Presentation

Genetic Landscape

PRPH2

ROM1

Diagnosis

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