The importance of electrophysiology in revealing a complete homozygous deletion of KCNV2
The importance of electrophysiology in revealing a complete homozygous deletion of KCNV2
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DOI：
10.1016/j.jaapos.2013.08.006
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发表时间：
2013-12-01
期刊：
影响因子：
1.6
通讯作者：
Jamieson, Robyn V.
中科院分区：
文献类型：
--
作者：
Grigg, John R.;Holder, Graham E.;Jamieson, Robyn V.
视电生理是儿童视力不佳和眼球震颤的重要辅助检查。视锥细胞营养不良伴视杆视网膜电图异常（KCNV2视网膜病变）具有病理特征电生理发现，如果确定，可直接进行分子基因检测。我们报告一个6岁男孩的病例，与其他KCNV2突变患者相比，他有典型的KCNV2视网膜病变的电生理表现，但有异常的视锥功能障碍。分子基因检测显示KCNV2基因完全纯合缺失。据我们所知，这是第一次这样的报道。在这种情况下，更大的锥体功能障碍表明了与遗传变化的表型联系。
Visual electrophysiology is an important ancillary investigation in children with poor vision and nystagmus. Cone dystrophy with supranormal rod electroretinogram (KCNV2 retinopathy) has pathognomonic electrophysiology findings that, if identified, direct molecular genetic testing. We report the case of a 6-year-old boy with typical electrophysiology findings of KCNV2 retinopathy but with abnormal cone dysfunction compared to other patients with mutations in KCNV2. Molecular genetic testing revealed complete homozygous deletion of KCNV2. To our knowledge, this is the first such report. The greater cone dysfunction seen in this case suggests a phenotypic link to the genetic changes.