Literature DB >> 20532522

[Bilateral loss of vision in an 11-year-old].

P Horn1, J Harder, C P Lohmann, I Lanzl.   

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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Year:  2010        PMID: 20532522     DOI: 10.1007/s00347-010-2168-x

Source DB:  PubMed          Journal:  Ophthalmologe        ISSN: 0941-293X            Impact factor:   1.059


  3 in total

1.  A new syndrome with Stargardt macular degeneration, abnormalities of the corpus callosum, mental retardation, and dysmorphic features: a case report of two siblings.

Authors:  Maria Descartes; Stuart A Royal; Judith Franklin; Kara Goodin; Melissa Mancuso; Fady M Mikhail; Lynn Holt
Journal:  Clin Dysmorphol       Date:  2009-07       Impact factor: 0.816

Review 2.  The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration.

Authors:  Robert S Molday; Ming Zhong; Faraz Quazi
Journal:  Biochim Biophys Acta       Date:  2009-02-20

3.  Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial.

Authors:  Albert M Maguire; Katherine A High; Alberto Auricchio; J Fraser Wright; Eric A Pierce; Francesco Testa; Federico Mingozzi; Jeannette L Bennicelli; Gui-shuang Ying; Settimio Rossi; Ann Fulton; Kathleen A Marshall; Sandro Banfi; Daniel C Chung; Jessica I W Morgan; Bernd Hauck; Olga Zelenaia; Xiaosong Zhu; Leslie Raffini; Frauke Coppieters; Elfride De Baere; Kenneth S Shindler; Nicholas J Volpe; Enrico M Surace; Carmela Acerra; Arkady Lyubarsky; T Michael Redmond; Edwin Stone; Junwei Sun; Jennifer Wellman McDonnell; Bart P Leroy; Francesca Simonelli; Jean Bennett
Journal:  Lancet       Date:  2009-10-23       Impact factor: 79.321

  3 in total

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