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Uncommon Associations with Ataxia-Telangiectasia: Vitiligo and Optic Disc Drusen

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OPHTHALMIC GENETICS
卷 30, 期 1, 页码 19-22

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TAYLOR & FRANCIS INC
DOI: 10.1080/13816810802415256

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Ataxia-telangiectasia; vitiligo; optic disc drusen

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Ataxia-telangiectasia (A-T) is an autosomal recesssive 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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