一名患有双侧科茨病和ABCA4基因突变的12岁女孩。
A 12-Year-Old Girl with Bilateral Coats Disease and ABCA4 Gene Mutation.
作者信息
Saatci Ali Osman, Ayhan Ziya, Yaman Aylin, Bora Elcin, Ulgenalp Ayfer, Kavukcu Salih
机构信息
Department of Ophthalmology, Dokuz Eylul University, Izmir, Turkey.
Department of Clinical Genetics, Dokuz Eylul University, Izmir, Turkey.
出版信息
Case Rep Ophthalmol. 2018 Aug 9;9(2):375-380. doi: 10.1159/000492320. eCollection 2018 May-Aug.
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.
一名患有双侧2B期科茨病的12岁女孩，由于她是女性且疾病为双侧性，因此对其进行了仔细筛查以寻找可能存在的潜在全身性疾病。全面的全身检查结果无异常。然而，基因分析发现了ABCA4基因突变。未发现NDP和TINF2基因突变。她通过双侧单次玻璃体内注射地塞米松植入物以及单次间接激光光凝治疗获得成功，取得了相对较好的解剖和功能结果。据我们所知，本病例是唯一报道的伴有ABCA4基因突变的科茨病病例。
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