Skip to main content Accessibility help
×
Hostname: page-component-77c89778f8-gq7q9 Total loading time: 0 Render date: 2024-07-17T03:06:19.108Z Has data issue: false hasContentIssue false

Chapter 9 - Ophthalmology

from Section 2 - Systems Involved in Mitochondrial Diseases

Published online by Cambridge University Press:  28 April 2018

Patrick F. Chinnery
Affiliation:
University of Cambridge
Michael J. Keogh
Affiliation:
University of Newcastle upon Tyne
Get access

Summary

Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2018

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Fraser, JA, Biousse, V, Newman, NJ. The neuro-ophthalmology of mitochondrial disease. Surv Ophthalmol 2010;55(4):299334.CrossRefGoogle ScholarPubMed
Yu-Wai-Man, P, Griffiths, PG, Chinnery, PF. Mitochondrial optic neuropathies – disease mechanisms and therapeutic strategies. Prog Retin Eye Res 2011;30(2):81114.CrossRefGoogle ScholarPubMed
Yu-Wai-Man, P, Chinnery, PF. Leber hereditary optic neuropathy. In Pagon, RA, Bird, TC, Dolan, CR, Stephens, K, editors. Gene Reviews. 2013; available online at www.ncbi.nlm.nih.gov/books/NBK1174/ (Accessed December 8, 2015).Google Scholar
Pfeffer, G, Burke, A, Yu-Wai-Man, P, Compston, DA, Chinnery, PF. Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations. Neurology 2013;81(24):20732081.Google Scholar
Yu-Wai-Man, P, Griffiths, PG, Gorman, GS, et al. Multi-system neurological disease is common in patients with OPA1 mutations. Brain 2010;133(3):771786.CrossRefGoogle ScholarPubMed
Bau, V, Zierz, S. Update on chronic progressive external ophthalmoplegia. Strabismus 2005;13(3):133142.Google Scholar
Schoser, BG, Pongratz, D. Extraocular mitochondrial myopathies and their differential diagnoses. Strabismus 2006;14(2):107113.Google Scholar
Richardson, C, Smith, T, Schaefer, A, et al. Ocular motility findings in chronic progressive external ophthalmoplegia. Eye 2005;19(3):258263.Google Scholar
Ziccardi, L, Sadun, F, De Negri, AM, et al. Retinal function and neural conduction along the visual pathways in affected and unaffected carriers with Leber’s hereditary optic neuropathy. Invest Ophthalmol Vis Sci 2013;54(10):68936901.CrossRefGoogle ScholarPubMed
Phillips, PH, Vaphiades, M, Glasier, CM, et al. Chiasmal enlargement and optic nerve enhancement on magnetic resonance imaging in Leber hereditary optic neuropathy. Arch Ophthalmol 2003;121(4):577579.Google Scholar
Yu-Wai-Man, C, Smith, FE, Blamire, A, et al. Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia. PLoS One. 2013;8(9):e75048.Google Scholar
Barboni, P, Savini, G, Valentino, ML, et al. Leber’s hereditary optic neuropathy with childhood onset. Invest Ophthalmol Vis Sci 2006;47(12):53035309.Google Scholar
Barboni, P, Savini, G, Valentino, ML, et al. Retinal nerve fiber layer evaluation by optical coherence tomography in Leber’s hereditary optic neuropathy. Ophthalmology 2005;112(1):120126.CrossRefGoogle ScholarPubMed
Pan, BX, Ross-Cisneros, FN, Carelli, V, et al. Mathematically modeling the involvement of axons in Leber’s hereditary optic neuropathy. Invest Ophthalmol Vis Sci 2012;53(12):76087617.Google Scholar
Kirkman, MA, Yu-Wai-Man, P, Korsten, A, et al. Gene-environment interactions in Leber hereditary optic neuropathy. Brain 2009;132(9):23172326.Google Scholar
La Morgia, C, Ross-Cisneros, FN, Sadun, AA, et al. Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies. Brain 2010;133(8):24262438.Google Scholar
Yu-Wai-Man, P, Votruba, M, Moore, AT, Chinnery, PF. Treatment strategies for inherited optic neuropathies – past, present and future. Eye 2014;28(5):521537.Google Scholar
Klopstock, K, Yu-Wai-Man, P, Dimitriadis, K, et al. A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy. Brain 2011;134(9):26772686.Google Scholar
Yu Wai Man, CY, Chinnery, PF, Griffiths, PG. Extraocular muscles have fundamentally distinct properties that make them selectively vulnerable to certain disorders. Neuromuscul Disord 2005;15(1):1723.Google Scholar
Greaves, LC, Yu-Wai-Man, P, Blakely, EL, et al. Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO. Invest Ophthalmol Vis Sci 2010;51(7):33403346.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×