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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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
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author Saatci, Ali Osman
Ayhan, Ziya
Yaman, Aylin
Bora, Elcin
Ulgenalp, Ayfer
Kavukcu, Salih
author_facet Saatci, Ali Osman
Ayhan, Ziya
Yaman, Aylin
Bora, Elcin
Ulgenalp, Ayfer
Kavukcu, Salih
author_sort Saatci, Ali Osman
collection PubMed
description 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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spelling pubmed-61203732018-09-05 A 12-Year-Old Girl with Bilateral Coats Disease and ABCA4 Gene Mutation Saatci, Ali Osman Ayhan, Ziya Yaman, Aylin Bora, Elcin Ulgenalp, Ayfer Kavukcu, Salih Case Rep Ophthalmol Case Report 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. S. Karger AG 2018-08-09 /pmc/articles/PMC6120373/ /pubmed/30186147 http://dx.doi.org/10.1159/000492320 Text en Copyright © 2018 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/4.0/ This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.
spellingShingle Case Report
Saatci, Ali Osman
Ayhan, Ziya
Yaman, Aylin
Bora, Elcin
Ulgenalp, Ayfer
Kavukcu, Salih
A 12-Year-Old Girl with Bilateral Coats Disease and ABCA4 Gene Mutation
title A 12-Year-Old Girl with Bilateral Coats Disease and ABCA4 Gene Mutation
title_full A 12-Year-Old Girl with Bilateral Coats Disease and ABCA4 Gene Mutation
title_fullStr A 12-Year-Old Girl with Bilateral Coats Disease and ABCA4 Gene Mutation
title_full_unstemmed A 12-Year-Old Girl with Bilateral Coats Disease and ABCA4 Gene Mutation
title_short A 12-Year-Old Girl with Bilateral Coats Disease and ABCA4 Gene Mutation
title_sort 12-year-old girl with bilateral coats disease and abca4 gene mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6120373/
https://www.ncbi.nlm.nih.gov/pubmed/30186147
http://dx.doi.org/10.1159/000492320
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