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Article

Molecular genetic diagnostics for inherited retinal dystrophies in the clinical setting.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie - 1 Oct 2024

Kolawole Olubayo U, Huang Albert, Gregory-Evans Cheryl Y, Shunmugam Maheshver, Weaver Travers, Gregory-Evans Kevin

Abstract excerpt

OBJECTIVE: To evaluate the success of diagnostic genetic testing in inherited retinal dystrophy (IRD) patients in the clinical setting. DESIGN: Retrospective cohort analysis. PARTICIPANTS: A total of 446 consecutive participants from diverse ethnic backgrounds living in western Canada. METHODS: Clinical information was collected from participants, including family history, and they underwent a full ophthalmic...

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Identifiers

PMID: 37678418
DOI: 10.1016/j.jcjo.2023.08.006

Genes

ABCA4
RPGR
USH2A

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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