Reversible optic neuropathy with OPA1 exon 5b mutation.
Ann Neurol
; 63(5): 667-71, 2008 May.
Article
em En
| MEDLINE
| ID: mdl-18360822
ABSTRACT
A new c.740G>A (R247H) mutation in OPA1 alternate spliced exon 5b was found in a patient presenting with bilateral optic neuropathy followed by partial, spontaneous visual recovery. R247H fibroblasts from the patient and his unaffected father presented unusual highly tubular mitochondrial network, significant increased susceptibility to apoptosis, oxidative phosphorylation uncoupling, and altered OPA1 protein profile, supporting the pathogenicity of this mutation. These results suggest that the clinical spectrum of the OPA1-associated optic neuropathies may be larger than previously described, and that spontaneous recovery may occur in cases harboring an exon 5b mutation.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doenças do Nervo Óptico
/
GTP Fosfo-Hidrolases
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article