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首页> 外文期刊>Retinal cases & brief reports >CENTRAL ELLIPSOID LOSS ASSOCIATED WITH CONE DYSTROPHY AND KCNV2 MUTATION
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CENTRAL ELLIPSOID LOSS ASSOCIATED WITH CONE DYSTROPHY AND KCNV2 MUTATION

机译：与锥营养不良和KCNV2突变相关的中央椭球损失

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Purpose: To report a case of central ellipsoid loss with supernormal rod electroretino-gram and KCNV2 gene mutation. Methods: Retrospective case report. Patient: Thirty-eight-year-old man. Results: We report a patient with longstanding vision loss and photophobia who illustrated central atrophy of the inner segment ellipsoid zone band on spectral domain optical coherence tomography. Fundus autofluorescence displayed mild perifoveal mottled autofluorescence. Electroretinography demonstrated a diminished rod-isolated response with delayed timing but a normal dark-adapted maximal response to bright flashes. Cone-mediated responses under light-adapted conditions were abnormal with evidence of selective loss of the b wave and a normal a wave consistent with cone dystrophy with supernormal rod electroretinogram. Genetic testing demonstrated a frameshift mutation in the KCNV2 gene. Conclusion: Cone dystrophy with supernormal rod electroretinogram is believed to be a monogenic disease due to KCNV2 gene mutations that affect a transmembrane potassium channel found in rod and cone photoreceptors. We report the multimodal retinal findings associated with a signature electroretinogram in this disorder. Clinicians should consider this rare condition when evaluating patients with central ellipsoid loss and associated cone dystrophy.
机译：目的：报告具有超正杆电化素克和KCNV2基因突变的中央椭球损失的情况。方法：回顾性案例报告。病人：三十八岁的男子。结果：我们报道了一种患者，具有长期视力丧失和光学恐惧症，如光谱畴光相干断层扫描在光谱域光学相干断层扫描上所示的内部段椭球区域带的中央萎缩。眼底自发荧光显示温和的薄膜斑驳自发荧光。 ElectroreTinography展示了减少的杆隔离响应，延迟定时，但对明亮闪光的正常深度适应的最大响应。锥形介导的反应条件下的反应是异常的，具有B波的选择性损失的证据和与具有超通杆电杆电气图的锥营养不良的正常波。基因检测证明了KCNV2基因中的帧突变突变。结论：由于KCNV2基因突变，锥形营养手术仪被认为是一种单一的疾病，由于KCNV2基因突变，影响杆和锥形光感受器中的跨膜钾通道。我们在该疾病中报告了与签名电气仪相关的多模峰视网膜发现。临床医生在评估中枢椭球损失和相关锥营养不良患者时应考虑这种罕见的病症。

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