"CONE DYSTROPHY WITH SUPERNORMAL ROD ELECTRORETINOGRAM": A COMPREHENSIVE GENOTYPE/PHENOTYPE STUDY INCLUDING FUNDUS AUTOFLUORESCENCE AND EXTENSIVE ELECTROPHYSIOLOGY
"CONE DYSTROPHY WITH SUPERNORMAL ROD ELECTRORETINOGRAM": A COMPREHENSIVE GENOTYPE/PHENOTYPE STUDY INCLUDING FUNDUS AUTOFLUORESCENCE AND EXTENSIVE ELECTROPHYSIOLOGY
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DOI：
10.1097/iae.0b013e3181bfe24e
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发表时间：
2010-01-01
影响因子：
3.3
通讯作者：
Holder, Graham E.
中科院分区：
文献类型：
--
作者：
Robson, Anthony G.;Webster, Andrew R.;Holder, Graham E.
目的：本研究的目的是描述“视锥细胞营养不良伴异常视杆电图（ERG）”的临床、电生理和遗传特征。方法：对24例5 ~ 59岁患者进行回顾性分析。结合国际标准，采用全场ergg推导强度- ergg响应函数。进行ON-OFF ERGs。对15例患者进行眼底自体荧光成像。脱氧核糖核酸在18例中可用，并筛选了KCNV2突变。结果：畏光、夜盲症常见。自身荧光是可变的，但常显示一个高密度的环状区域，在中年个体中，通常被黄斑视网膜色素上皮萎缩区域包围。暗位ERG振幅与正常范围重叠，但具有特征的a波和b波强度响应函数；所有的人都有一个扩大的a波到最亮的闪光。光性ergg异常；在一些ON和大多数OFF响应中存在延迟。18例检测到KCNV2突变，其中4例为新突变。结论：KCNV2突变个体表现出广泛的黄斑和自身荧光异常。旁中央凹高密度自身荧光的环状区域是常见的。ERG振幅是可变的，但强度-ERG响应函数和明亮闪光ERG波形是典型的。视网膜30:51 - 62,2010
Purpose: The purpose of this study was to characterize the clinical, electrophysiologic, and genetic features in "cone dystrophy with supernormal rod electroretinogram (ERG)."Methods: Twenty-four cases between 5 and 59 years of age were ascertained. Full-field ERGs, incorporating the international standards, were used to derive intensity-ERG response functions. ON-OFF ERGs were performed. Fundus autofluorescence imaging was performed on 15 subjects. Deoxyribonucleic acid was available in 18 cases and was screened for a mutation in KCNV2.Results: Photophobia and nyctalopia were common. Autofluorescence was variable but often showed a ring-like area of high density that in middle-aged individuals, usually surrounded by an area of macular retinal pigment epithelial atrophy. Scotopic ERG amplitudes overlapped with the normal range but had characteristic a-and b-wave intensity-response functions; all had a broadened a-wave to the brightest flash. Photopic ERGs were abnormal; there was a delay in some ON and most OFF responses. Mutations in KCNV2 were detected in 18 cases, including 4 with novel mutations.Conclusion: Individuals with mutations in KCNV2 manifest a wide range of macular and autofluorescence abnormalities. A ring-like area of parafoveal high density autofluorescence is common. ERG amplitudes are variable, but the intensity-ERG response functions and bright flash ERG waveforms are pathognomonic. RETINA 30:51-62,2010