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

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 a...

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Detalles Bibliográficos
Autores principales: Saatci, Ali Osman, Ayhan, Ziya, Yaman, Aylin, Bora, Elcin, Ulgenalp, Ayfer, Kavukcu, Salih
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6120373/
https://www.ncbi.nlm.nih.gov/pubmed/30186147
http://dx.doi.org/10.1159/000492320
Descripción
Sumario: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.

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