A 12-Year-Old Girl with Bilateral Coats Disease and ABCA4 Gene Mutation


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SAATCİ A. O., AYHAN Z., YAMAN A., BORA E., ÜLGENALP A., KAVUKÇU S.

CASE REPORTS IN OPHTHALMOLOGY, vol.9, no.2, pp.375-380, 2018 (ESCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 9 Issue: 2
  • Publication Date: 2018
  • Doi Number: 10.1159/000492320
  • Journal Name: CASE REPORTS IN OPHTHALMOLOGY
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus
  • Page Numbers: pp.375-380
  • Keywords: ABCA4 gene, Coats disease, Dexamethasone implant (Ozurdex), LECTURE, MANAGEMENT
  • Dokuz Eylül University Affiliated: Yes

Abstract

A 12-year-old girl with bilateral stage 2B Coats disease was screened meticulously for a possible underlying systemic disease as she was female and the disease was bilateral. Full systemic workout turned out to be unremarkable. However, an ABCA4 gene mutation was found in the genetic analysis. NDP and TINF2 gene mutations were not present. She was successfully treated with a bilateral, single intravitreal injection of dexamethasone implant and a single session of indirect laser photocoagulation with a relatively good anatomic and functional result. To the best of our knowledge, the present case is the only reported case of Coats disease with an ABCA4 gene mutation. (C) 2018 The Author(s) Published by S. Karger AG, Basel