title: Uncommon associations with ataxia-telangiectasia: vitiligo and optic disc drusen.
abstract: Ataxia-telangiectasia (A-T) is an autosomal recessive condition presented by progressive cerebellar ataxia, oculocutaneous telangiectasia, humoral and cellular immunodeficiencies and a predisposition to malignancy. We report on a 13 years old male patient with the diagnosis of A-T associated with uncommon clinical features; optic disc drusen and vitiligo. To our knowledge, this is the first report of A-T associated with these findings.
authors.affiliation: Department of Ophthalmology, Mersin University Medical School, Mersin, Turkey. docayc@yahoo.com
authors.forename: Ayça
authors.initials: A
authors.lastname: Sari
authors.forename: Cetin
authors.initials: C
authors.lastname: Okuyaz
authors.forename: Ufuk
authors.initials: U
authors.lastname: Adiguzel
authors.forename: Nurcan Aras
authors.initials: NA
authors.lastname: Ates
mesh_terms: D000293:Adolescent; D001260:Ataxia Telangiectasia / Q000150:complications*; D016516:CD4-CD8 Ratio; D006801:Humans; D017099:IgG Deficiency / Q000175:diagnosis; D007621:Karyotyping; D008297:Male; D015594:Optic Disk Drusen / Q000150:complications*; D014820:Vitiligo / Q000150:complications*