title: Optic atrophy in Marinesco-Sjögren syndrome: an additional ocular feature. Report of three cases in two families.
abstract: Marinesco-Sjögren syndrome (MSS) is a rare inherited disease with neurological and ocular manifestations. The latter include bilateral cataracts and, less frequently, nystagmus and strabismus. The authors report here three cases of MSS syndrome, all with optic atrophy, an additional ocular feature not hitherto described in this syndrome.
authors.affiliation: Istituto di Scienze Neurologiche, Università di Siena, Italy.
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: A M
authors.initials: AM
authors.lastname: Bardelli
authors.forename: N
authors.initials: N
authors.lastname: De Stefano
authors.forename: A
authors.initials: A
authors.lastname: Federico
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: M
authors.initials: M
authors.lastname: Vanni
authors.forename: G C
authors.initials: GC
authors.lastname: Guazzi
mesh_terms: D000293:Adolescent; D000328:Adult; D002386:Cataract / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009896:Optic Atrophy / Q000235:genetics*; D013132:Spinocerebellar Degenerations / Q000235:genetics*