Optic Atrophy Type 1

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Xu, R. Optic Atrophy Type 1. Encyclopedia. Available online: https://encyclopedia.pub/entry/4784 (accessed on 28 September 2026).

Xu R. Optic Atrophy Type 1. Encyclopedia. Available at: https://encyclopedia.pub/entry/4784. Accessed September 28, 2026.

Xu, Rita. "Optic Atrophy Type 1" Encyclopedia, https://encyclopedia.pub/entry/4784 (accessed September 28, 2026).

Xu, R. (2020, December 24). Optic Atrophy Type 1. In Encyclopedia. https://encyclopedia.pub/entry/4784

Xu, Rita. "Optic Atrophy Type 1." Encyclopedia. Web. 24 December, 2020.

Optic Atrophy Type 1

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/optic-atrophy-type-1

Optic atrophy type 1 is a condition that often causes slowly worsening vision, usually beginning in childhood. People with optic atrophy type 1 typically experience a narrowing of their field of vision (tunnel vision). Affected individuals gradually lose their sight as their field of vision becomes smaller. Both eyes are usually affected equally, but the severity of the vision loss varies widely, even among affected members of the same family, ranging from nearly normal vision to complete blindness.

genetic conditions

References

Delettre-Cribaillet C, Hamel CP, Lenaers G. Optic Atrophy Type 1. 2007 Jul 13 [updated 2015 Nov 12]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1248/
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 ofsuspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.Hum Mutat. 2009 Jul;30(7):E692-705. doi: 10.1002/humu.21025.
Formichi P, Radi E, Giorgi E, Gallus GN, Brunetti J, Battisti C, Rufa A, DottiMT, Franceschini R, Bracci L, Federico A. Analysis of opa1 isoforms expressionand apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients withmutations in the opa1 gene. J Neurol Sci. 2015 Apr 15;351(1-2):99-108. doi:10.1016/j.jns.2015.02.047.
Roubertie A, Leboucq N, Picot MC, Nogue E, Brunel H, Le Bars E, Manes G,Angebault Prouteau C, Blanchet C, Mondain M, Chevassus H, Amati-Bonneau P, Sarzi E, Pagès M, Villain M, Meunier I, Lenaers G, Hamel CP. Neuroradiological findingsexpand the phenotype of OPA1-related mitochondrial dysfunction. J Neurol Sci.2015 Feb 15;349(1-2):154-60. doi: 10.1016/j.jns.2015.01.008.
Yu-Wai-Man P, Griffiths PG, Burke A, Sellar PW, Clarke MP, Gnanaraj L, Ah-KineD, Hudson G, Czermin B, Taylor RW, Horvath R, Chinnery PF. The prevalence andnatural history of dominant optic atrophy due to OPA1 mutations. Ophthalmology.2010 Aug;117(8):1538-46, 1546.e1. doi: 10.1016/j.ophtha.2009.12.038.
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. OPA1mutations associated with dominant optic atrophy impair oxidative phosphorylationand mitochondrial fusion. Brain. 2008 Feb;131(Pt 2):352-67. doi:10.1093/brain/awm335.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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