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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...

Topics

Genetic Counseling
Genetic Testing
Humans
Mutation
Retina
Retinal Diseases
Retinal Dystrophies

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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