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CRISPR-Cas9 correction of OPA1 c.1334G>A: p.R445H restores mitochondrial homeostasis in dominant optic atrophy patient-derived iPSCs

19 Aug 2021

Abstract excerpt

Autosomal dominant optic atrophy (DOA) is the most common inherited optic neuropathy in the United Kingdom. DOA has an insidious onset in early childhood, typically presenting with bilateral, central visual loss caused by the preferential loss of retinal ganglion cells. 60%–70% of genetically confirmed DOA cases are associated with variants in OPA1 , a ubiquitously expressed GTPase that regulates mitochondrial...

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PMID: 34589289
DOI: 10.1016/j.omtn.2021.08.015

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