Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genotypic and phenotypic landscape of novel RPGR variants in patients from Western Canada.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie - 1 Jun 2026

Gregory-Evans Cheryl Y, Shunmugam Maheshver, Li Boaz, Gregory-Evans Kevin

Abstract excerpt

OBJECTIVE: To evaluate the breadth of RPGR gene variants in a cohort of Canadian inherited retinal dystrophy patients. DESIGN: A retrospective cohort analysis. PARTICIPANTS: We evaluated 54 subjects in Western Canada with an inherited retinal dystrophy diagnosis and confirmed variants in the RPGR gene. METHODS: Clinical information collected included family history, age, sex, and ethnicity. All participants...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Canada
Share to Electroretinography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Fluorescein Angiography

Share to Retinal Dystrophies

Share to Visual Acuity

Share to Visual Field Tests

Share to Visual Fields

Source

Identifiers

PMID: 41539649
DOI: 10.1016/j.jcjo.2025.12.016

Genes

RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotypic and phenotypic landscape of novel RPGR variants in patients from Western Canada.PMID 41539649Read ↗

Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations.Semantic proximity Read ↗

Expanding the Mutation Spectrum of Non-Syndromic Retinitis Pigmentosa in Consanguineous Pakistani Families: Unraveling Novel Pathogenic Variants in RP1, PDE6B, and PRCD Genes for Precision Diagnosis.Semantic proximity Read ↗

Next-generation genetic testing for retinitis pigmentosa.Semantic proximity Read ↗

Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families.Semantic proximity Read ↗

Genotype–Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature ReviewSemantic proximity Read ↗

Identification of the RPGR Gene Pathogenic Variants in a Cohort of Polish Male Patients with Retinitis Pigmentosa Phenotype.Semantic proximity Read ↗

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.Semantic proximity Read ↗

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.Semantic proximity Read ↗

Inherited retinal disorders: a genotype-phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling.Semantic proximity Read ↗

Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy.Semantic proximity Read ↗

Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.Semantic proximity Read ↗

Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype–Phenotype Correlation in 228 PatientsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.