Uncommon associations with ataxia-telangiectasia: vitiligo and optic disc drusen.
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.
Sari
Ayça
A
Department of Ophthalmology, Mersin University Medical School, Mersin, Turkey. docayc@yahoo.com
Okuyaz
Cetin
C
Adiguzel
Ufuk
U
Ates
Nurcan Aras
NA
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*