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retinitis pigmentosa 85 (RP85) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 85

MONDO:0032689

Also known as:RP85

Overview

GeneticsAutosomal recessive · AHR (chr 7)

OnsetJUVENILE

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: Reduced visual acuity and Progressive night blindness. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	1	Progressive night blindness

Age of onset: adolescence.

Explore clinical features

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.

AHR encodes aryl hydrocarbon receptor (848 aa). Ligand-activated transcription factor that enables cells to adapt to changing conditions by sensing compounds from the environment, diet, microbiome and cellular metabolism, and which plays important roles in development, immunity and cancer. Highest expression in Nerve Tibial (133.7 TPM) and Cells Cultured fibroblasts (55.2 TPM).

Retinitis pigmentosa 85 is associated with mutations in the AHR gene on chromosome 7.

AHR is classified as a druggable target (Druggable Genome, Enzyme, Nuclear Hormone Receptor, Transcription Factor, and Transcription Factor Complex categories) with score 0.9.

Diagnosis

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

Biomarker and diagnostic research for retinitis pigmentosa 85 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 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 85.

38 publications have been identified in PubMed for retinitis pigmentosa 85. Research spans Epidemiology / Natural History (32%), Review / Meta-Analysis (24%), and Basic Science / Preclinical (21%).

Research Type	Count	% of Total
Disease patterns and progression	12	32%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:15 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618345

GARD

Genetic and Rare Diseases Info Center

GARD:16342

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 85

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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