Phenotypic Characteristics Including In Vivo Cone Photoreceptor Mosaic in KCNV2-Related "Cone Dystrophy with Supernormal Rod Electroretinogram"
Phenotypic Characteristics Including In Vivo Cone Photoreceptor Mosaic in KCNV2-Related "Cone Dystrophy with Supernormal Rod Electroretinogram"
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DOI：
10.1167/iovs.12-10971
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发表时间：
2013-01-01
影响因子：
4.4
通讯作者：
Heon, Elise
中科院分区：
文献类型：
--
作者：
Vincent, Ajoy;Wright, Tom;Heon, Elise
目的.报道KCNV 2相关的视锥细胞营养不良伴超常视杆细胞视网膜电图（CDSR）的表型特征，包括黄斑视锥细胞形态学。7例患者，年龄9至18岁，在最后一次访问，与特征性的全视野视网膜电图（ERG）的CDSR功能进行了筛选KCNV 2基因的突变。所有患者均接受了详细的眼科评估，包括距离和色觉测试、对比敏感度测量、眼底照相、眼底自发荧光（FAF）成像和光谱域光学相干断层扫描（SD-OCT）。对6个案件进行了后续访问。使用明亮的白色闪光ERG方案（240 cd.s/m（2））评估视杆细胞感光功能。黄斑锥感光细胞形态进行了评估，从28 28带状图像获得自适应光学扫描激光检眼镜（AOSLO）在6例。在所有7例病例中均发现了KCNV 2的致病性突变。在最近一次访视时，所有病例的最佳矫正视力均为20/125或更差（20/125-20/400）。2例患者视力下降呈进行性。所有病例的色觉和对比敏感度均异常。视网膜检查发现最小的色素上皮细胞的变化，在中心凹的四个案件。最常见的FAF异常是周围或旁环的高荧光（5例）。所有病例的SD-OCT均显示外部视网膜异常。视杆细胞最大反应降低，但视杆细胞敏感性正常。AOSLO显示所有6例患者的视锥细胞密度均显著降低。CDSR的中心视力参数逐渐恶化。结构性视网膜和脂褐质积聚异常是常见的。黄斑锥光感受器镶嵌在疾病的早期被明显破坏。（Invest Ophthalmol维斯科学。2013;54：898-908）DOI：10.1167/iovs.12-10971
PURPOSE. To report phenotypic characteristics including macular cone photoreceptor morphology in KCNV2-related "cone dystrophy with supernormal rod electroretinogram" (CDSR).METHODS. Seven patients, aged 9 to 18 years at last visit, with characteristic full-field electroretinographic (ERG) features of CDSR were screened for mutations in the KCNV2 gene. All patients underwent detailed ophthalmological evaluation, which included distance and color vision testing, contrast sensitivity measurement, fundus photography, fundus auto-fluorescence (FAF) imaging, and spectral domain-optical coherence tomography (SD-OCT). Follow-up visits were available in six cases. Rod photoreceptor function was assessed using a bright white flash ERG protocol (240 cd.s/m(2)). Macular cone photoreceptor morphology was assessed from 28 by 28 zonal images obtained using adaptive optics scanning laser ophthalmoscopy (AOSLO) in six cases.RESULTS. Pathogenic mutations in KCNV2 were identified in all seven cases. Best corrected vision was 20/125 or worse in all cases at the latest visit (20/125-20/400). Vision loss was progressive in two cases. Color vision and contrast sensitivity was abnormal in all cases. Retinal exam revealed minimal pigment epithelial changes at the fovea in four cases. A peri-or parafoveal ring of hyperfluorescence was the most common FAF abnormality noted (five cases). The SD-OCT showed outer retinal abnormalities in all cases. The rod photoreceptor maximal response was reduced but rod sensitivity was normal. AOSLO showed markedly reduced cone density in all six patients tested.CONCLUSIONS. Central vision parameters progressively worsen in CDSR. Structural retinal and lipofuscin accumulation abnormalities are commonly present. Macular cone photoreceptor mosaic is markedly disrupted early in the disease. (Invest Ophthalmol Vis Sci. 2013;54:898-908) DOI:10.1167/iovs.12-10971