Abstract

BIDAGUREN, A.; BLANCO, A.; GIBELALDE, A.  and  IRIGOYEN, C.. Progressive geographic chorioretinopathy associated with Alagille syndrome. Arch Soc Esp Oftalmol [online]. 2007, vol.82, n.8, pp.513-515. ISSN 0365-6691.

Case report: We report the case of a patient with the genetic diagnosis of Alagille Syndrome, who has attended our hospital since 1992, and has shown a progressive bilateral chorioretinopathy with severe deterioration in visual acuity. Discussion: Ocular abnormalities associated with Alagille Syndrome are variable and can affect most ocular structures. Although severe visual threat or progressive ocular disease associated with Alagille syndrome have not yet been described, our patient has shown a marked decrease in visual acuity and a clear progression of the chorioretinal atrophy.

Keywords : Alagille Syndrome; Jagged 1 gene; chorioretinopathy; serpiginous choroiditis; posterior embriotoxon.

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