Genetic Screening for OPA1 and OPA3 Mutations in Patients with Suspected Inherited Optic Neuropathies
- 31 March 2011
- journal article
- Published by Elsevier BV in Ophthalmology
- Vol. 118 (3), 558-563
- https://doi.org/10.1016/j.ophtha.2010.07.029
Abstract
No abstract availableKeywords
Funding Information
- National Institutes of Health (R01 EY11916, P30 EY 06360)
- Research to Prevent Blindness (R01 EY11916, P30 EY 06360)
- National Institutes of Health (R01 EY11916, P30 EY 06360)
This publication has 38 references indexed in Scilit:
- Multi-system neurological disease is common in patients with OPA1 mutationsBrain, 2010
- OPA1 functions in mitochondria and dysfunctions in optic nerveThe International Journal of Biochemistry & Cell Biology, 2009
- Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novelOPA1mutationsHuman Mutation, 2009
- Reversible optic neuropathy with OPA1 exon 5b mutationAnnals of Neurology, 2008
- Inherited mitochondrial optic neuropathiesJournal of Medical Genetics, 2008
- Visual Acuities “Hand Motion” and “Counting Fingers” Can Be Quantified with the Freiburg Visual Acuity TestPublished by Association for Research in Vision and Ophthalmology (ARVO) ,2006
- Molecular genetic basis of primary inherited optic neuropathiesEye, 2004
- OPA3 mutation screening in patients with unexplained 3‐methylglutaconic aciduriaJournal of Inherited Metabolic Disease, 2004
- Cytochrome b mutations in Leber hereditary optic neuropathyBiochemical and Biophysical Research Communications, 1991
- An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.JCI Insight, 1988