2023
DOI: 10.3389/fnmol.2023.1241222
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Genetic background modulates phenotypic expressivity in OPA1 mutated mice, relevance to DOA pathogenesis

Djamaa Atamena,
Venu Gurram,
Petnoï Petsophonsakul
et al.

Abstract: Dominant optic atrophy (DOA) is mainly caused by OPA1 mutations and is characterized by the degeneration of retinal ganglion cells (RGCs), whose axons form the optic nerve. The penetrance of DOA is incomplete and the disease is marked by highly variable expressivity, ranging from asymptomatic patients to some who are totally blind or who suffer from multisystemic effects. No clear genotype–phenotype correlation has been established to date. Taken together, these observations point toward the existence of modif… Show more

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