Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene.
Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene.
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DOI：
10.1167/iovs.61.11.27
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发表时间：
2020-09-01
影响因子：
4.4
通讯作者：
Sawamura H
中科院分区：
文献类型：
--
作者：
Nakamura N;Tsunoda K;Mitsutake A;Shibata S;Mano T;Nagashima Y;Ishiura H;Iwata A;Toda T;Tsuji S;Sawamura H
报告NOTCH 2NLC基因CGG重复扩增的神经元核内包涵体病（NIID）相关视网膜病变的眼部特征。本文报告了6个家系的7例成人型NIID患者，年龄66-81岁。进行眼科检查，包括最佳矫正视力（BCVA）、Goldmann视野检查、眼底照相、眼底自发荧光（FAF）成像、光学相干断层扫描（OCT）和全视野视网膜电图（ERG）。确定N 0 TCH 2NLC基因中CGG重复序列的扩增。所有患者在N 0 TCH 2NLC基因中具有CGG重复序列的扩增（长度约为330-520 bp）。5例有症状的病例中最常见的症状是视力下降和夜盲症。另外两名患者没有任何眼部症状。十进制BCVA从0.15到1.2不等。Goldmann视野在所有4例受试者中均缩小，其中2例生理盲点扩大。所有病例的FAF图像均显示视盘周围无自体荧光（AF），并且还显示中周边部轻度低AF或AF熄灭。在所有的情况下，OCT图像显示在视乳头周围区域的光感受器的椭圆体区的情况下，和高反射点也存在于视网膜神经节细胞层和外核层之间。视网膜病变晚期累及黄斑区。全视野视网膜电图显示视杆-视锥功能障碍。NOTCH 2NLC基因CGG重复序列扩增的成人型NIID患者具有相似的眼科特征，包括视杆-视锥功能障碍伴视乳头周围和中周边区域进行性视网膜变性。主要部位很可能是光感受器。由于眼部症状往往被忽视，由于痴呆症和偶尔之前的痴呆症的发病，详细的眼科检查是重要的NIID相关视网膜病变的早期诊断。
To report the ocular characteristics of neuronal intranuclear inclusion disease (NIID)–related retinopathy with expansion of the CGG repeats in the NOTCH2NLC gene. Seven patients from six families (aged 66–81 years) diagnosed with adult-onset NIID were studied. Ophthalmologic examinations, including the best-corrected visual acuity (BCVA), Goldmann perimetry, fundus photography, fundus autofluorescence (FAF) imaging, optical coherence tomography (OCT), and full-field electroretinography (ERGs), were performed. The expansion of the CGG repeats in the NOTCH2NLC gene was determined. All patients had an expansion of the CGG repeats (length approximately from 330–520 bp) in the NOTCH2NLC gene. The most common symptoms of the five symptomatic cases were reduced BCVA and night blindness. The other two cases did not have any ocular symptoms. The decimal BCVA varied from 0.15 to 1.2. Goldmann perimetry was constricted in all four cases tested; physiological blind spot was enlarged in two of the cases. The FAF images showed an absence of autofluorescence (AF) around the optic disc in all cases and also showed mild hypo-AF or extinguished AF in the midperiphery. In all cases, the OCT images showed an absence of the ellipsoid zone of the photoreceptors in the peripapillary region, and hyperreflective dots were also present between the retinal ganglion cell layer and outer nuclear layer. The macular region was involved in the late stage of the retinopathy. The full-field ERGs showed rod-cone dysfunction. Patients with adult-onset NIID with CGG repeats expansions in the NOTCH2NLC gene had similar ophthalmologic features, including rod-cone dysfunction with progressive retinal degeneration in the peripapillary and midperipheral regions. The primary site is most likely the photoreceptors. Because the ocular symptoms are often overlooked due to dementia and occasionally precede the onset of dementia, detailed ophthalmological examinations are important for the early diagnosis of NIID-related retinopathy.
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影响因子：
16.2
作者：
Todd PK;Oh SY;Krans A;He F;Sellier C;Frazer M;Renoux AJ;Chen KC;Scaglione KM;Basrur V;Elenitoba-Johnson K;Vonsattel JP;Louis ED;Sutton MA;Taylor JP;Mills RE;Charlet-Berguerand N;Paulson HL
通讯作者：
Paulson HL
影响因子：
64.5
作者：
Fiddes IT;Lodewijk GA;Mooring M;Bosworth CM;Ewing AD;Mantalas GL;Novak AM;van den Bout A;Bishara A;Rosenkrantz JL;Lorig-Roach R;Field AR;Haeussler M;Russo L;Bhaduri A;Nowakowski TJ;Pollen AA;Dougherty ML;Nuttle X;Addor MC;Zwolinski S;Katzman S;Kriegstein A;Eichler EE;Salama SR;Jacobs FMJ;Haussler D
通讯作者：
Haussler D
影响因子：
--
作者：
ARRINDELL, EL;TROBE, JD;BARNETT, JL
通讯作者：
BARNETT, JL
DOI：
10.2169/internalmedicine.1141-18
发表时间：
2018-12-01
期刊：
Internal medicine (Tokyo, Japan)
影响因子：
--
作者：
Yamaguchi N;Mano T;Ohtomo R;Ishiura H;Almansour MA;Mori H;Kanda J;Shirota Y;Taira K;Morikawa T;Ikemura M;Yanagi Y;Murayama S;Shimizu J;Sakurai Y;Tsuji S;Iwata A
通讯作者：
Iwata A
影响因子：
30.8
作者：
ORR, HT;CHUNG, MY;ZOGHBI, HY
通讯作者：
ZOGHBI, HY