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Dynamic Visual Tests to Identify and Quantify Visual Damage and Repair Following Demyelination in Optic Neuritis Patients
Published on: April 14, 2014
[Bilateral loss of vision in an 11-year-old]
P Horn1, J Harder, C P Lohmann
1Augenklinik, Klinikum rechts der Isar, Ismaninger Straße 22, 81675, München. peter.horn@mytum.de
Abstract:
We present the case of an 11-year-old girl with continuously progressive loss of vision. Fundoscopy revealed a picture consistent with Stargardt's disease and fundus flavimaculatus. This article provides a short overview of differential diagnoses worth considering in children and adolescents who present with a similar picture. After our initial workup, genetic chip analysis of the ABCA4 gene was performed, which yielded a heterozygous mutation. Because a second mutation could likely have been on a part of the gene not screened by chip analysis, and in light of the striking picture, a clinical diagnosis of Stargardt's disease was made.
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