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 |
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Format: | Artikel |
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. |
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ISSN: | 1381-6810 1744-5094 |
DOI: | 10.1080/13816810802415256 |