期刊
OPHTHALMIC GENETICS
卷 30, 期 1, 页码 19-22出版社
TAYLOR & FRANCIS INC
DOI: 10.1080/13816810802415256
关键词
Ataxia-telangiectasia; vitiligo; 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 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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