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retinitis pigmentosa 27 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 27

MONDO:0013402

Also known as:NRL retinitis pigmentosaRP27retinitis pigmentosa caused by mutation in NRL

Overview

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

GeneticsAutosomal dominant · NRL (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 common findings: Constriction of peripheral visual field, Undetectable electroretinogram, Bone spicule pigmentation of the retina, and Nyctalopia and others; and sometimes findings: Macular edema and Attenuation of retinal blood vessels. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	5	Macular edema, Blindness, Visual impairment

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.

NRL encodes neural retina leucine zipper (237 aa). Acts as a transcriptional activator which regulates the expression of several rod-specific genes, including RHO and PDE6B.

Retinitis pigmentosa 27 is caused by mutations in the NRL gene on chromosome 14.

NRL is classified as a druggable target (Transcription Factor category) with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for retinitis pigmentosa 27 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 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 27.

62 publications have been identified in PubMed for retinitis pigmentosa 27. Research spans Basic Science / Preclinical (34%), Epidemiology / Natural History (27%), and Diagnostic / Biomarker (11%).

Research Type	Count	% of Total
Laboratory research	21	34%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613750

GARD

Genetic and Rare Diseases Info Center

GARD:15700

Questions for Your Care Team

→Should I pursue genetic testing for NRL, and what would the results mean for my family?
→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 27

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 27

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