Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) | |
Inheritance |
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Ocular features |
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Systemic features |
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | Ocular
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Therapies under research |
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Further information |
References
- Yu-Wai-Man P, Chinnery PF. Dominant optic atrophy: novel OPA1 mutations and revised prevalence estimates Ophthalmology. 2013 Dec;120(12):2448
- Yu-Wai-Man P, Griffiths PG, Gorman GS, et al. Multi-system neurological disease is common in patients with OPA1 mutations. Brain. 2010;133(Pt 3):771-786
- Lenaers G, Hamel C, Delettre C, et al. Dominant optic atrophy. Orphanet J Rare Dis. 2012;7:46
- Yu-Wai-Man P, Bailie M, Atawan A, Chinnery PF, Griffiths PG. Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations. Eye (Lond). 2011;25(5):596-602
- Barboni P, Savini G, Cascavilla ML, et al. Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation. Am J Ophthalmol. 2014;158(3):628-36.e3
- Santarelli R, Rossi R, Scimemi P, et al. OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. Brain. 2015;138(Pt 3):563-576
- Ferré M, Bonneau D, Milea D, et al. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum Mutat. 2009;30(7):E692-E705
- Bonneau D, Colin E, Oca F, et al. Early-onset Behr syndrome due to compound heterozygous mutations in OPA1. Brain. 2014;137(Pt 10):e301
- Schaaf CP, Blazo M, Lewis RA, et al. Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations. Mol Genet Metab. 2011;103(4):383-387
- Yu-Wai-Man P, Votruba M, Moore AT, Chinnery PF. Treatment strategies for inherited optic neuropathies: past, present and future. Eye (Lond). 2014;28(5):521-537
- Carelli V, Ross-Cisneros FN, Sadun AA. Mitochondrial dysfunction as a cause of optic neuropathies. Prog Retin Eye Res. 2004;23(1):53-89