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Article

Analysis of Pathogenic Variants Correctable With CRISPR Base Editing Among Patients With Recessive Inherited Retinal Degeneration.

JAMA ophthalmology - 1 Mar 2021

Fry Lewis E, McClements Michelle E, MacLaren Robert E

Abstract excerpt

Importance: Many common inherited retinal diseases are not easily treated with gene therapy. Gene editing with base editors may allow the targeted repair of single-nucleotide transition variants in DNA and RNA. It is unknown how many patients have pathogenic variants that are correctable with a base editing strategy. Objective: To assess the prevalence and spectrum of pathogenic single-nucleotide variants...

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Identifiers

PMID: 33507217
DOI: 10.1001/jamaophthalmol.2020.6418
PMCID: PMC7844696

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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