[Bilateral loss of vision in an 11-year-old].
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.
Augenklinik, Klinikum rechts der Isar, Ismaninger Straße 22, 81675, München. peter.horn@mytum.de
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Horn
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Harder
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Lohmann
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Lanzl
D000015:Abnormalities, Multiple / Q000175:diagnosis; D055673:Acrocallosal Syndrome / Q000175:diagnosis; D061085:Agenesis of Corpus Callosum; D001766:Blindness; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis