Department of Ophthalmology, Hospital for Sick Children, Toronto, Ontario, Canada.
Retina. 2013 Jan;33(1):5-12. doi: 10.1097/IAE.0b013e31827e2306.
To review three inherited retinal disorders associated with diagnostic or pathognomonic electroretinogram (ERG) abnormalities: cone dystrophy with supernormal rod ERG (KCNV2), enhanced S-cone syndrome (NR2E3), and bradyopsia (RGS9/R9AP).
A review of clinical details, genetic basis, and electrophysiological features in these disorders and a brief summary of the standard and nonstandard ERG techniques required to identify the disorders.
The electrophysiological features in each of these three disorders are pathognomonic such that the responsible gene can be specified. The results from nonstandard electrophysiological testing in excess of international standards are necessary to describe the pathognomonic changes in cone dystrophy with supernormal rod ERG and bradyopsia. The clinical phenotype in the disorders can be variable. Mutations in NR2E3 may additionally be associated with phenotypes other than enhanced S-cone syndrome.
: Characteristic ERG changes enable the diagnosis of cone dystrophy with supernormal rod ERG, enhanced S-cone syndrome, and bradyopsia and accurate genetic screening. This review highlights the need for additional nonstandard ERGs to make the diagnosis in two of these disorders.
回顾三种与诊断或特征性视网膜电图（ERG）异常相关的遗传性视网膜疾病：伴有超正常杆状细胞 ERG 的 cones 变性（KCNV2）、增强 S- cones 综合征（NR2E3）和视力迟钝（RGS9/R9AP）。
回顾这些疾病的临床细节、遗传基础和电生理特征，并简要总结识别这些疾病所需的标准和非标准 ERG 技术。
这三种疾病中的每一种的电生理特征都是特征性的，以至于可以指定负责的基因。需要进行超出国际标准的非标准电生理测试，以描述伴有超正常杆状细胞 ERG 的 cones 变性和视力迟钝的特征性变化。疾病的临床表型可能存在差异。NR2E3 的突变还可能与增强 S- cones 综合征以外的表型相关。
特征性 ERG 变化可用于诊断伴有超正常杆状细胞 ERG 的 cones 变性、增强 S- cones 综合征和视力迟钝，并进行准确的基因筛查。本综述强调了在其中两种疾病中需要进行额外的非标准 ERG 以做出诊断。
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