Long-term follow-up of a Chinese patient with KCNV2-retinopathy
Long-term follow-up of a Chinese patient with KCNV2-retinopathy
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一名中国 KCNV2 视网膜病变患者的长期随访
DOI：
10.1080/13816810.2020.1861307
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发表时间：
2021
期刊：
影响因子：
1.2
通讯作者：
Li S.
中科院分区：
文献类型：
--
作者：
Lie H;Wang G;Liu X;Meng X;Long Y;Ren J;Yang L;Fujinami-Yokokawa Y;Kurihara T;Tsubota K;Fujinami K;Li S.
目的：描述并监测1例中国KCNV 2视网膜病变患者的临床和电生理特征。1例17岁中国男性，诊断为视锥细胞营养不良伴超常视杆细胞反应（CDSRR），随访5年，进行了全面的眼科检查，包括十进制最佳矫正视力（BCVA）、眼底照相、眼底自发荧光（FAF）成像、光谱域光学相干断层扫描（SD-OCT）和全视野视网膜电图（ERG）。进行基因筛查，以检测在患者和他的父母的视网膜营养不良相关基因的序列变异。结果：患者表现出的特征性的全视野视网膜电图（ERG）的CDSRR的功能，即一个深刻的扩大的暗适应的ERG b波振幅增加闪光强度和扩大的a-波谷;这种情况下也有不可检测的光适应的ERG。双眼的BCVA均保持在0.15以上，持续5年;同时发现进行性黄斑萎缩。分子遗传学分析揭示了两种新的致病KCNV 2变异体处于复合杂合状态：c.1408 G > C（p.Gly470Arg）和c.1500 C > G（p.Tyr500Ter）。本例中显示的进行性萎缩伴VA持续存在，对于增加对KCNV 2视网膜病变自然病程的了解是有价值的，并有助于对患有这种疾病的患者进行咨询。
Purpose: To characterize and monitor the clinical and electrophysiological features of a Chinese patient withKCNV2retinopathy.Methods: A 17-year-old Chinese male with the diagnosis of cone dystrophy with supernormal rod response (CDSRR) was followed-up for 5 years, with full ophthalmological examinations, including decimal best corrected visual acuity (BCVA), fundus photography, fundus autofluorescence (FAF) imaging, spectral-domain optical coherence tomography (SD-OCT), and full-field electroretinogram (ERG). Genetic screening was performed to detect the sequence variations in the retinal dystrophy associated genes in the patient and his parents.Results: The patient demonstrated the characteristic full-field electroretinography (ERG) features of CDSRR, namely a profound enlargement of the dark-adapted ERG b-wave amplitude with increasing flash strength and a broadened a-wave trough; this case also had undetectable light-adapted ERGs. A BCVA of 0.15 was maintained over 5 years in both eyes; while progressive macular atrophy was identified. Molecular genetic analyses revealed two novel disease-causingKCNV2variants in compound heterozygous state: c.1408 G > C (p.Gly470Arg) and c.1500 C > G (p.Tyr500Ter).Conclusions: This is the first long-term case study of an East Asian patient with molecularly confirmed CDSRR. The progressive atrophy with maintained VA demonstrated in this case will be valuable for increasing the understanding of the natural course ofKCNV2retinopathy and it will help in counselling patients with this disease.
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影响因子：
1.6
作者：
Grigg, John R.;Holder, Graham E.;Jamieson, Robyn V.
通讯作者：
Jamieson, Robyn V.
影响因子：
4.1
作者：
Michaelides, M;Holder, GE;Moore, AT
通讯作者：
Moore, AT
作者手稿，发表于“美国眼科杂志 2008;145(6):1099-106” DOI: 10.1016/j.ajo.2008.02.004
DOI：
--
发表时间：
2008
期刊：
--
影响因子：
--
作者：
H. Fung;Chitat Chan
通讯作者：
Chitat Chan
影响因子：
4.4
作者：
Vincent, Ajoy;Wright, Tom;Heon, Elise
通讯作者：
Heon, Elise
DOI：
10.1097/iae.0b013e3181bfe24e
发表时间：
2010-01-01
影响因子：
3.3
作者：
Robson, Anthony G.;Webster, Andrew R.;Holder, Graham E.
通讯作者：
Holder, Graham E.