Optic atrophy type 1
Dernière mise à jour 8 nov. 2023
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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.
Description
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.
In addition to vision loss, people with optic atrophy type 1 frequently have problems with colour vision (colour vision deficiency) that make it difficult or impossible to distinguish between shades of blue and green.
In the early stages of the condition, individuals with optic atrophy type 1 experience a progressive loss of certain cells within the retina, which is a specialized light-sensitive tissue that lines the back of the eye. The loss of these cells (known as retinal ganglion cells) is followed by the degeneration (atrophy) of the nerves that relay visual information from the eye to the brain (optic nerves), which results in further vision loss. Atrophy causes these nerves to have an abnormally pale appearance (pallor), which can be seen during an eye examination.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
ADOA
Autosomal dominant optic atrophy
Autosomal dominant optic atrophy Kjer type
DOA
Dominant optic atrophy
Kjer type optic atrophy
Kjer's optic atrophy
Optic atrophy, autosomal dominant
Optic atrophy, hereditary, autosomal dominant
Optic atrophy, juvenile
Optic atrophy, Kjer type
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Problèmes oculaires
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Lectures complémentaires et références
- Optic atrophy type 1; MedlinePlus, National Library of Medicine.
- Delettre-Cribaillet C, Hamel CP, Lenaers G. Optic Atrophy Type 1 - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2007 Jul 13 [updated 2015 Nov 12]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1248/
- Ferre 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.
- Formichi P, Radi E, Giorgi E, Gallus GN, Brunetti J, Battisti C, Rufa A, Dotti MT, Franceschini R, Bracci L, Federico A. Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene. J Neurol Sci. 2015 Apr 15;351(1-2):99-108. doi: 10.1016/j.jns.2015.02.047. Epub 2015 Mar 6.
- 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, Pages M, Villain M, Meunier I, Lenaers G, Hamel CP. Neuroradiological findings expand 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. Epub 2015 Jan 13.
- Yu-Wai-Man P, Griffiths PG, Burke A, Sellar PW, Clarke MP, Gnanaraj L, Ah-Kine D, Hudson G, Czermin B, Taylor RW, Horvath R, Chinnery PF. The prevalence and natural 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. Epub 2010 Apr 24.
- 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.
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