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Article

Genetic testing and diagnosis of inherited retinal diseases.

Orphanet journal of rare diseases - 14 Dec 2021

Lam Byron L, Leroy Bart P, Black Graeme, Ong Tuyen, Yoon Dan, Trzupek Karmen

Abstract excerpt

Inherited retinal diseases (IRDs) are a diverse group of degenerative diseases of the retina that can lead to significant reduction in vision and blindness. Because of the considerable phenotypic overlap among IRDs, genetic testing is a critical step in obtaining a definitive diagnosis for affected individuals and enabling access to emerging gene therapy-based treatments and ongoing clinical studies. While...

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Identifiers

PMID: 34906171
DOI: 10.1186/s13023-021-02145-0
PMCID: PMC8670140

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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