Rapid onset of visual recovery following acute visual loss due to Leber's hereditary optic neuropathy;Amélioration rapide de la fonction visuelle après perte visuelle aiguë secondaire àune neuropathie optique de Leber

Revue Neurologique

Volumn 161, Issue 5, 2005, Pages 599-601

  Kawasaki, A ^a   Borruat, F X ^a  

^a HÔPITAL OPHTALMIQUE JULES GONIN   (Switzerland)

Author keywords

14484; 15257; Leber's hereditary optic neuropathy; Mitochondrial disease; Optic neuropathy

Indexed keywords

MITOCHONDRIAL DNA;

ANAMNESIS; CASE REPORT; CLINICAL FEATURE; CONFERENCE PAPER; DEMYELINATING DISEASE; DIAGNOSTIC ERROR; DISEASE COURSE; EYE PAIN; FEMALE; HUMAN; IDIOPATHIC DISEASE; LEBER HEREDITARY OPTIC NEUROPATHY; MALE; MOLECULAR GENETICS; NEUROOPHTHALMOLOGY; ONSET AGE; OPTIC NERVE DISEASE; PAPILLEDEMA; POINT MUTATION; SCHOOL CHILD; SIBLING; VISUAL IMPAIRMENT;

EID: 20444386899     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0035-3787(05)85099-4     Document Type: Conference Paper

References (7)

1. BROWN MD, ALLEN JC, VAN STAVERN GP, NEWMAN N, WALLACE DC. (2001). Clinical, genetic and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations. Am J Med Genet, 104:331-338.
2. FAUSER S, LUBERICHS J, BESCH D, LEO-KOTTLER B. (2002). Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations. Biochem Biophys Res Commun, 295: 342-347.
3. HOWELL N, MILLER NR, MACKEY DA, ARNOLD A, HERRNSTADT C, WILLIAMS I, KUBACKA I. (2002). Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations. J Neuroophthalmol, 22: 262-269.
4. JOHNS DR, SMITH KH, SAVINO PJ, MILLER NR. (1993). Leber's hereditary optic neuropathy. Clinical manifestations of the 15257 mutation. Ophthalmology, 100: 981-986.
5. JOHNS DR, HEHER KL, MILLER NR, SMITH KH. (1993b). Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation. Arch Ophthalmol, 111: 495-498.
6. KENNEDY C, CARROLL FD. (1960). Optic neuritis in children. Arch Ophthalmol, 63: 747-755.
7. RIORDAN-EVA P, SANDERS MD, GOVAN GG, SWEENEY MG, DA COSTA J, HARDING AE. (1995). The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitocnondrial DNA mutation. Brain, 118: 319-337.