The Eye on Mitochondrial Disorders.

Details

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State: Public
Version: Author's accepted manuscript
Serval ID
serval:BIB_7F3ABF62D193
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
The Eye on Mitochondrial Disorders.
Journal
Journal of Child Neurology
Author(s)
Finsterer J., Zarrouk-Mahjoub S., Daruich A.
ISSN
1708-8283 (Electronic)
ISSN-L
0883-0738
Publication state
Published
Issued date
2016
Peer-reviewed
Oui
Volume
31
Number
5
Pages
652-662
Language
english
Notes
Publication types: Journal ArticlePublication Status: ppublish
Abstract
Ophthalmologic manifestations of mitochondrial disorders are frequently neglected or overlooked because they are often not regarded as part of the phenotype. This review aims at summarizing and discussing the etiology, pathogenesis, diagnosis, and treatment of ophthalmologic manifestations of mitochondrial disorders. Review of publications about ophthalmologic involvement in mitochondrial disorders by search of Medline applying appropriate search terms. The eye is frequently affected by syndromic as well as nonsyndromic mitochondrial disorders. Primary and secondary ophthalmologic manifestations can be differentiated. The most frequent ophthalmologic manifestations of mitochondrial disorders include ptosis, progressive external ophthalmoplegia, optic atrophy, retinopathy, and cataract. More rarely occurring are nystagmus and abnormalities of the cornea, ciliary body, intraocular pressure, the choroidea, or the brain secondarily affecting the eyes. It is important to recognize and diagnose ophthalmologic manifestations of mitochondrial disorders as early as possible because most are accessible to symptomatic treatment with partial or complete short-term or long-term beneficial effect. Ophthalmologic manifestations of mitochondrial disorders need to be appropriately diagnosed to initiate the most effective management and guarantee optimal outcome.
Pubmed
Web of science
Open Access
Yes
Create date
02/02/2016 17:24
Last modification date
20/08/2019 14:40
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