Structural and functional measures of inner retinal integrity following visual acuity improvement in a patient with hereditary motor and sensory neuropathy type VI.
Structural and functional measures of inner retinal integrity following visual acuity improvement in a patient with hereditary motor and sensory neuropathy type VI.
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DOI：
10.3109/13816810.2011.587859
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发表时间：
2011-09
影响因子：
1.2
通讯作者：
Alexander KR
中科院分区：
文献类型：
--
作者：
Gowrisankaran S;Anastasakis A;Fishman GA;Alexander KR
报告遗传性运动和感觉神经病VI型（HMSN VI）患者视力和视野改善后视网膜内层完整性的测量结果。该患者是一名患有HMSN VI（2A型腓骨肌萎缩症和相关视神经萎缩）和线粒体融合蛋白2（MFN 2）基因c.1090C→T（p.R364W）突变的白人男性。患者的最佳矫正视力从初次访视时的20/200（OD）和20/400（OS）提高到7年后测试时的20/25。初次访视时双眼存在的视野缺损在随访访视时消失。通过光学相干断层扫描（OCT）评价视网膜神经纤维层厚度（RNFLT）来评估内层视网膜的结构完整性，并通过视网膜电图（ERG）的明视负反应（PhNR）的幅度来评估功能完整性。在随访时，患者的RNFLT在上级和下级象限OD以及颞象限OS的一个扇区中低于对照受试者的第5百分位数，但在其他地方处于正常范围内。每只眼的PhNR振幅均低于正常范围的下限。在视敏度和视野改善至接近正常值后，视网膜的某些象限中的异常低PhNR振幅和异常薄的RNFL说明了评估HMSN VI患者的内层视网膜的结构和功能的潜在有用性。
To report measures of inner retinal integrity following improvement in visual acuity and visual fields in a patient with hereditary motor and sensory neuropathy type VI (HMSN VI). The patient is a Caucasian male with HMSN VI (type 2A Charcot-Marie-Tooth disease and associated optic atrophy) and a c.1090C→T (p.R364W) mutation in the mitofusin 2 (MFN2) gene. The patient’s best-corrected visual acuity improved from 20/200 (OD) and 20/400 (OS) at the initial visit to 20/25 in each eye when tested seven years later. The visual field defects in both eyes that were present at the initial visit were absent at the follow-up visit. The structural integrity of the inner retina was assessed by an evaluation of retinal nerve fiber layer thickness (RNFLT) using optical coherence tomography (OCT), and the functional integrity was assessed by the amplitude of the photopic negative response (PhNR) of the electroretinogram (ERG). At the follow-up visit, the patient’s RNFLT was less than the 5th percentile for control subjects in the superior and inferior quadrants OD and in one sector of the temporal quadrant OS, but was within normal limits elsewhere. The PhNR amplitude of each eye was below the lower limit of the normal range. The abnormally low PhNR amplitudes and abnormally thin RNFL in certain quadrants of the retina following improvement of visual acuity and visual fields to near-normal values illustrates the potential usefulness of assessing the structure and function of the inner retina in HMSN VI patients.
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影响因子：
14.5
作者：
Chung, K. W.;Kim, S. B.;Choi, B. O.
通讯作者：
Choi, B. O.
影响因子：
--
作者：
Gotoh, Y;Machida, S;Tazawa, Y
通讯作者：
Tazawa, Y
影响因子：
11.2
作者：
Züchner, S;De Jonghe, P;Vance, JM
通讯作者：
Vance, JM
影响因子：
30.8
作者：
Züchner, S;Mersiyanova, IV;Vance, JM
通讯作者：
Vance, JM
影响因子：
4.4
作者：
Machida, Shigeki;Gotoh, Yasutaka;Kurosaka, Daijiro
通讯作者：
Kurosaka, Daijiro