Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up
Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up
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DOI：
10.1007/s10633-020-09766-z
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发表时间：
2020-04-24
影响因子：
1.4
通讯作者：
Li, Shiying
中科院分区：
文献类型：
--
作者：
Liu, Xiao;Gao, Lixia;Li, Shiying
目的报告1例Oguchi病合并多发性渐逝性白色斑点综合征（MEWDS）患者，随访15个月。方法通过最佳矫正视力、眼底照相、眼底自发荧光（FAF）成像、近红外FAF、光谱域光学相干断层扫描、Humphrey视野、微视野检查和多焦视网膜电图记录患者的临床表现和随访。我们还进行了全外显子组测序，以筛查患者及其亲属的变异。结果该患者具有典型的Oguchi病临床特征，包括夜盲、Mizuo-Nakamura现象（在长时间的暗适应[DA]中眼底的金黄色变色消失）和典型的全视野视网膜电图改变（在0.01和0.03ERG中几乎未检测到b波，只有在长时间的DA后才能部分恢复）。除了Oguchi病，患者还根据临床检测诊断为MEWDS，包括视力突然下降，出现白色点，椭圆区模糊和交错区破坏，盲点扩大，黄斑敏感度降低。一系列的调查显示，发病后沿着随访15个月，视力提高，众多的白色点消失，黄斑结构恢复正常。此外，在SAG基因中鉴定了新的纯合剪接改变c.181 + 1G> A。结论这项工作是第一个长期的病例研究的患者与Oguchi病与MEWDS。MEWDS引起的症状恢复期明显长于典型MEWDS患者。分子遗传学证明，这是第一例由SAG基因剪接改变引起的Oguchi病。
Purpose We report a 15-month follow-up case on a Chinese patient with Oguchi disease associated with the multiple evanescent white dot syndrome (MEWDS). Methods The patient's clinical presentation and follow-up visits were documented via decimal best-corrected visual acuity, fundus photography, fundus autofluorescence (FAF) imaging, near-infrared FAF, spectral domain optical coherence tomography, Humphrey's visual fields, microperimetry, and multifocal electroretinography. We also performed whole exome sequencing for screening variation in the patient and her relatives. Results The patient had typical clinical characteristic of Oguchi disease, including night blindness, the Mizuo-Nakamura phenomenon (a golden yellow discoloration of the fundus that disappears in the prolonged dark adaptation [DA]) and typical full-field electroretinogram changes (nearly undetected b-wave in 0.01 and 0.03 ERGs that can partially recover only after prolonged DA). Aside from Oguchi disease, the patient was also diagnosed with the MEWDS based on clinical detections, including suddenly reduced visual acuity, appeared white dots, blurred ellipsoid zone and disrupted interdigitation zone, enlarged blind spot, and reduced macular sensitivity. A series of investigations revealed that along with the 15-month follow-up after onset, the visual acuity enhanced, the numerous white dots disappeared, and the macular structure returned to normal. Moreover, the novel homozygous splicing alteration c.181 + 1G > A was identified in the SAG gene. Conclusions This work is the first long-term case study of a patient with Oguchi disease associated with the MEWDS. The recovery period of symptoms caused by the MEWDS was much longer than that in typical patients with MEWDS. Molecular genetics demonstrate that this is the first case of Oguchi disease caused by splicing alterations in the SAG gene.