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Article

Molecular diagnostic yield and barriers in inherited retinal diseases: a retrospective cohort study.

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

Gao Angel, Zhai Yi F, Kodida Rita, Ballios Brian G

Abstract excerpt

OBJECTIVE: To evaluate the diagnostic yield of panel-based genetic testing for inherited retinal diseases (IRDs) and identify barriers to molecular resolution. DESIGN: Retrospective cohort. PARTICIPANTS: A total of 404 patients with clinically confirmed IRDs who were evaluated at the Adult Inherited Retinal Dystrophy Service, Ontario, Canada (October 2021-September 2024). METHODS: Patients underwent targeted...

Read the complete abstract on PubMed

Topics

Humans
Retrospective Studies
Male
Female
Genetic Testing
Adult
Middle Aged

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Phenotype

Eye Diseases, Hereditary

Retinal Diseases

High-Throughput Nucleotide Sequencing

Young Adult

Adolescent

Mutation

Aged

Source

Identifiers

PMID: 42150613
DOI: 10.1016/j.jcjo.2026.04.026

Genes

ABCA4
BEST1
USH2A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

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