Ophthalmic Genetics 2009-Mar
Uncommon associations with ataxia-telangiectasia: vitiligo and optic disc drusen.
Numai utilizatorii înregistrați pot traduce articole
Log In / Înregistrare
Linkul este salvat în clipboard
Cuvinte cheie
Abstract
Ataxia-telangiectasia (A-T) is an autosomal recessive 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.