Journal
COMPTES RENDUS BIOLOGIES
Volume 337, Issue 3, Pages 193-206Publisher
centre Mersenne pour ldition scientifique ouverte
DOI: 10.1016/j.crvi.2013.11.011
Keywords
Mitochondria; Retina; Optic nerve; Respiratory chain; Gene therapy; AAV vectors; LHON
Categories
Funding
- INSERM
- CNRS [UMR_S 968]
- Association Francaise contre les Myopathies (AFM)
- Emergence-Bio
- Agence Nationale pour la Recherche (ANR)/Maladies Rares
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Mitochondrial disorders cannot be ignored anymore in most medical disciplines; indeed their minimum estimated prevalence is superior to 1 in 5000 births. Despite the progress made in the last 25 years on the identification of gene mutations causing mitochondrial pathologies, only slow progress was made towards their effective treatments. Ocular involvement is a frequent feature in mitochondrial diseases and corresponds to severe and irreversible visual handicap due to retinal neuron loss and optic atrophy. Interestingly, three clinical trials for Leber Congenital Amaurosis due to RPE65 mutations are ongoing since 2007. Overall, the feasibility and safety of ocular Adeno-Associated Virus delivery in adult and younger patients and consistent visual function improvements have been demonstrated. The success of gene-replacement therapy for RPE65 opens the way for the development of similar approaches for a broad range of eye disorders, including those with mitochondrial etiology such as Leber Hereditary Optic Neuropathy (LHON). (c) 2013 Academie des sciences. Published by Elsevier Masson SAS. All rights reserved.
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