Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia.
Arch Ophthalmol
; 111(11): 1482-5, 1993 Nov.
Article
en En
| MEDLINE
| ID: mdl-8240101
ABSTRACT
OBJECTIVE:
To determine the frequency of known primary mitochondrial DNA (mtDNA) mutations for Leber's hereditary optic neuropathy (LHON) in patients previously diagnosed as having tobacco-alcohol amblyopia.DESIGN:
A case series of 12 patients with tobacco-alcohol amblyopia. Follow-up ranged from 2 months to 15 years.SETTING:
Tertiary care. PATIENTS Twelve patients diagnosed as having tobacco-alcohol amblyopia, based on the classic clinical presentation, were tested for all the known primary mtDNA mutations associated with LHON. All patients had a history of heavy alcohol or tobacco use or both. Twelve other patients who fit inclusion criteria were unable to be contacted or refused to participate in the study. MAIN OUTCOMEMEASURES:
Presence of a known primary mutation for LHON at nucleotide positions 11778, 3460, 15257, or 14484 of mtDNA.RESULTS:
Two (17%) of 12 patients previously diagnosed as having tobacco-alcohol amblyopia tested positive for known LHON genetic mutations, one for the 11778 mutation and one for the 3460 mutation.CONCLUSIONS:
The diagnosis of LHON should be considered in all patients diagnosed as having tobacco-alcohol amblyopia, particularly those with visual acuities of 20/200 or less. The availability of molecular genetic testing for LHON now allows confirmation of the diagnosis of LHON in patients who otherwise may be misdiagnosed.
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Banco de datos:
MEDLINE
Asunto principal:
Fumar
/
Atrofias Ópticas Hereditarias
/
Ambliopía
/
Alcoholismo
Tipo de estudio:
Etiology_studies
/
Observational_studies
/
Risk_factors_studies
Límite:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Año:
1993
Tipo del documento:
Article