Unilateral BEST1-Associated Retinopathy.
Unilateral BEST1-Associated Retinopathy.
复制标题
单侧最佳1相关视网膜病。
DOI：
10.1016/j.ajo.2016.05.024
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发表时间：
2016-09
影响因子：
4.2
通讯作者：
Michaelides, Michel
中科院分区：
文献类型：
--
作者：
Arora, Rashi;Khan, Kamron;Kasilian, Melissa L.;Strauss, Rupert W.;Holder, Graham E.;Robson, Anthony G.;Thompson, Dorothy A.;Moore, Anthony T.;Michaelides, Michel
描述一系列经分子证实的BEST1基因突变导致Best病但具有单侧临床表现的患者。回顾性观察病例系列。单位：英国伦敦的穆尔菲尔德眼科医院和大奥蒙德街医院。患者：5例(10只眼)BEST1突变导致Best病的单眼表现患者，从临床和遗传数据库中回顾确定。主要观察指标：患者进行全面眼科检查、彩色眼底照相、眼底自发荧光成像、光谱域光学相干断层扫描和详细的电生理检查。进行了基因检测。除了单侧表现外，所有病例在不同阶段都有典型的Best病的临床表现，并与Best病的表现一致。减少的眼电上升是双侧的，因此在正常的视网膜电波的背景下，提示视网膜色素上皮水平的全身性功能障碍。BEST1中的突变具有不同的外显率和表达能力，并且可以是单眼的。所述的临床和电生理特征有助于靶向突变筛查和对潜在诊断的警觉，即使在有不典型的单侧表现时也是如此。
To describe a series of patients with molecularly confirmed mutation in BEST1 causing Best disease but with unilateral clinical manifestation. Retrospective observational case series. Setting: Moorfields Eye Hospital and Great Ormond Street Hospital, London (United Kingdom). Patients: Five patients (10 eyes) with uniocular manifestation of BEST1 mutation causing Best disease were ascertained retrospectively from the clinical and genetic databases. Main Outcome Measures: Patients had full ophthalmologic examination, color fundus photography, fundus autofluorescence imaging, spectral-domain optical coherence tomography, and detailed electrophysiological assessment. Genetic testing was performed. All cases had a clinical appearance typical of and consistent with Best disease at various stages, except that the presentation was unilateral. The reduced electrooculogram light rise was bilateral and in the context of normal electroretinograms therefore indicates generalized dysfunction at the level of the retinal pigment epithelium. Mutation in BEST1 has variable penetrance and expressivity, and can be uniocular. The clinical and electrophysiological features described assist targeted mutational screening and alert to the potential diagnosis even when there is an atypical unilateral presentation.
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影响因子：
4
作者：
Marchant, D.;Yu, K.;Abitbol, M.
通讯作者：
Abitbol, M.
影响因子：
5.3
作者：
Bakall, B;Marknell, T;Wadelius, C
通讯作者：
Wadelius, C
影响因子：
13.7
作者：
Renner, AB;Tillack, H;Kellner, U
通讯作者：
Kellner, U
DOI：
10.1007/978-1-4614-3209-8_15
发表时间：
2014-01-01
期刊：
RETINAL DEGENERATIVE DISEASES: MECHANISMS AND EXPERIMENTAL THERAPY
影响因子：
--
作者：
Strauss, Olaf;Mueller, Claudia;Gomez, Nestor Mas
通讯作者：
Gomez, Nestor Mas
影响因子：
--
作者：
Mullins, RF;Oh, KT;Stone, EM
通讯作者：
Stone, EM