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

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 u...

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Veröffentlicht in:Ophthalmic genetics 2009-03, Vol.30 (1), p.19-22
Hauptverfasser: Sari, Ayça, Okuyaz, Çetin, Adiguzel, Ufuk, Ate, Nurcan Aras
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Sprache:eng
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Zusammenfassung: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.
ISSN:1381-6810
1744-5094
DOI:10.1080/13816810802415256