title: Leber's hereditary optic neuropathy: clinical and molecular genetic aspects. Preliminary results in our families.
abstract: Leber's hereditary optic neuropathy (LHON) is a genetic maternally transmitted disorder characterised by sudden bilateral loss of vision. The discovery of at least one mitochondrial DNA mutation associated with the disease has provided the basis for a molecular diagnosis in about 50% of families with LHON. We present a brief review of the clinical and molecular genetic aspects of LHON along with our results in 13 patients.
authors.affiliation: Department of Ophthalmology, University Hospital, Ghent, Belgium.
authors.forename: E
authors.initials: E
authors.lastname: Van Caelenberghe
authors.forename: F
authors.initials: F
authors.lastname: Meire
authors.forename: C
authors.initials: C
authors.lastname: Broux
authors.forename: G
authors.initials: G
authors.lastname: Vassart
authors.forename: P
authors.initials: P
authors.lastname: Cochaux
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004247:DNA / Q000235:genetics*; D016373:DNA, Antisense / Q000302:isolation & purification; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D015418:Optic Atrophies, Hereditary / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D014792:Visual Acuity
chemical_list: D016373:DNA, Antisense; D004247:DNA