Associated Papers
Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review.
Othman BA et al.
Genes, 2022
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.
Weisschuh N et al.
Plos One, 2021
Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation.
Barboni P et al.
American Journal of Ophthalmology, 2014
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.
Bonifert T et al.
Brain : a Journal of Neurology, 2014
Multi-system neurological disease is common in patients with OPA1 mutations.
Yu-Wai-Man P et al.
Brain : a Journal of Neurology, 2010
Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function.
Davies VJ et al.
Human Molecular Genetics, 2007
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.
Pesch UE et al.
Human Molecular Genetics, 2001
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