title: Autosomal recessive 'optic atrophy' with late onset and evidence of ganglion cell dysfunction: a sibship of two females.
abstract: Two sisters aged about 40 years presented with a recent moderate reduction in visual acuity and pale optic discs. The nonconsanguineous parents, 7 other siblings and all other family members have normal vision. This strongly indicates a hereditary, autosomal recessive origin. A primary ganglion cell pathology is strongly suspected because of the significant attenuation of the early component of the onset/offset visual-evoked potential in the presence of little change in the potential to a pattern reversal stimulus.
authors.affiliation: Department of Surgery (RIE), University of Edinburgh, UK.
authors.forename: C I
authors.initials: CI
authors.lastname: Phillips
authors.forename: G I
authors.initials: GI
authors.lastname: Mackintosh
authors.forename: J W
authors.initials: JW
authors.lastname: Howe
authors.forename: K W
authors.initials: KW
authors.lastname: Mitchell
mesh_terms: D000328:Adult; D017668:Age of Onset; D004596:Electroretinography; D005074:Evoked Potentials, Visual; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D009154:Mutation; D009896:Optic Atrophy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D010375:Pedigree; D012165:Retinal Ganglion Cells