A detailed phenotypic study of "cone dystrophy with supernormal rod ERG"
A detailed phenotypic study of "cone dystrophy with supernormal rod ERG"
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DOI：
10.1136/bjo.2004.050567
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发表时间：
2005-03-01
影响因子：
4.1
通讯作者：
Moore, AT
中科院分区：
文献类型：
--
作者：
Michaelides, M;Holder, GE;Moore, AT
目的：目的：探讨视锥细胞营养不良伴视杆细胞ERG异常的临床表现，方法：对10例视锥细胞营养不良患者进行临床检查和眼底彩色摄影，其中9例进行详细的电生理检查。五名患者进一步评估眼底自发荧光（AF）成像，自动明视和暗适应视野检查，和暗适应。在6名受试者中进行了详细的色觉评估。结果：4例患者的发病年龄均在1 ~ 20岁，其中1例为男性，2例为女性，3例为男性，3例为女性，4例为男性，4例为女性，5例为男性，6例为女性，6例为男性，7例为女性，6例为男性，7例为女性。受试者表现为中心视力下降和明显的恐惧症。所有的人都是近视和色觉测试显示严重减少主要沿沿着红绿轴的颜色歧视，tritan色觉保存相对较好。夜盲症是这种疾病的后期特征。眼底镜和AF成像显示了一系列黄斑外观。有明显的黄斑功能障碍的电生理证据，减少和延迟锥反应，和超常和延迟杆反应。明视和暗适应视野检查显示中央暗点伴广泛的周边敏感性丧失。没有疾病引起的序列变异NR2E3weridentified.Conclusions：迄今为止最大的病例系列已被描述的临床，心理和电生理特征，这种不寻常的视锥细胞营养不良与超常杆反应。电生理数据与pkototransduction后一致，但前内核层，功能障碍的网站。虽然明确的诊断只能通过电生理测试，几个特点，可能会增加怀疑这种诊断。
Aims: To ckaracterise the detailed phenotype of "cone dystrophy with supernormal rod ERG" in a case series of 10 patients.Methods: 10 affected patients were examined clinically and underwent colour fundus photography, with nine undergoing detailed electrophysiological testing. Five patients were assessed further with fundus autofluorescence (AF) imaging, automated photopic and dark adapted perimetry, and dark adaptometry. Detailed colour vision assessment was performed in six subjects. Blood samples were taken from four patients for DNA extraction and mutation screening of NR2E3 was undertaken.Results: The onset of symptoms was in the first and second decades of life. Subjects presented with reduced central vision and marked photophobia. All individuals were myopic and colour vision testing revealed severely reduced colour discrimination predominantly along the red-green axes; tritan colour vision was relatively well preserved. Nyctalopia is a later feature of the disorder. Funduscopy and AF imaging revealed a range of macular appearances. There was electrophysiological evidence of marked macular dysfunction, reduced and delayed cone responses, and supernormal and delayed rod responses. Photopic and dark adapted perimetry revealed central scotomata with widespread peripheral sensitivity loss. No disease causing sequence variants in NR2E3 were identified.Conclusions: The largest case series to date has been described of the clinical, psychophysical and electrophysiological characteristics of this unusual cone dystrophy with supernormal rod responses. Electrophysiological data were consistent with a post-pkototransduction, but pre-inner nuclear layer, site of dysfunction. While the definitive diagnosis can only be made with electrophysiological testing, several characteristics that may increase suspicion of this diagnosis are presented.