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

被引：10

作者：

Sari, Ayca ^{[1
]}

Okuyaz, Cetin ^{[2
]}

Adiguzel, Ufuk ^{[1
]}

Ates, Nurcan Aras ^{[3
]}

机构：

[1] Mersin Univ, Dept Ophthalmol, Sch Med, Mersin, Turkey

[2] Mersin Univ, Sch Med, Dept Pediat Neurol, Mersin, Turkey

[3] Mersin Univ, Sch Med, Dept Med Biol & Genet, Mersin, Turkey

来源：

OPHTHALMIC GENETICS | 2009年 / 30卷 / 01期

关键词：

Ataxia-telangiectasia; vitiligo; optic disc drusen; PATHOGENESIS; FAMILY;

D O I：

10.1080/13816810802415256

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：19 / 22

页数：4

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