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References

These sources were used to develop the Genetics Home Reference condition summary on optic atrophy type 1.

Amati-Bonneau P, Milea D, Bonneau D, Chevrollier A, Ferré M, Guillet V, Gueguen N, Loiseau D, de Crescenzo MA, Verny C, Procaccio V, Lenaers G, Reynier P. OPA1-associated disorders: phenotypes and pathophysiology. Int J Biochem Cell Biol. 2009 Oct;41(10):1855-65. doi: 10.1016/j.biocel.2009.04.012. Epub 2009 Apr 21. Review. PubMed citation
Cohn AC, Toomes C, Hewitt AW, Kearns LS, Inglehearn CF, Craig JE, Mackey DA. The natural history of OPA1-related autosomal dominant optic atrophy. Br J Ophthalmol. 2008 Oct;92(10):1333-6. doi: 10.1136/bjo.2007.134726. Epub 2008 Jul 24. PubMed citation
Ferré M, Bonneau D, Milea D, Chevrollier A, Verny C, Dollfus H, Ayuso C, Defoort S, Vignal C, Zanlonghi X, Charlin JF, Kaplan J, Odent S, Hamel CP, Procaccio V, Reynier P, Amati-Bonneau P. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum Mutat. 2009 Jul;30(7):E692-705. doi: 10.1002/humu.21025. PubMed citation
Fuhrmann N, Alavi MV, Bitoun P, Woernle S, Auburger G, Leo-Kottler B, Yu-Wai-Man P, Chinnery P, Wissinger B. Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy. J Med Genet. 2009 Feb;46(2):136-44. doi: 10.1136/jmg.2008.062570. PubMed citation
Zanna C, Ghelli A, Porcelli AM, Karbowski M, Youle RJ, Schimpf S, Wissinger B, Pinti M, Cossarizza A, Vidoni S, Valentino ML, Rugolo M, Carelli V. OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. Brain. 2008 Feb;131(Pt 2):352-67. doi: 10.1093/brain/awm335. PubMed citation


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