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Uncommon associations with ataxia-telangiectasia: vitiligo and optic disc drusen
Ayça Sari1, Cetin Okuyaz, Ufuk Adiguzel
1Department of Ophthalmology, Mersin University Medical School, Mersin, Turkey. docayc@yahoo.com
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.
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