Phenotypic variation in enhanced S-cone syndrome
Phenotypic variation in enhanced S-cone syndrome
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DOI：
10.1167/iovs.05-1629
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发表时间：
2008-05-01
影响因子：
4.4
通讯作者：
Holder, Graham E.
中科院分区：
文献类型：
--
作者：
Audo, Isabelle;Michaelides, Michel;Holder, Graham E.
目的.描述19例增强型Scone综合征（ESCS）患者的临床、心理物理和电生理表型，并将表型与潜在的遗传突变联系起来。患者接受眼科检查和功能测试，包括模式ERG，全视野ERG，长时间和短波长刺激。对部分患者进行进一步检查，包括彩色对比敏感度（CCS）、多焦ERG、眼底自发荧光成像（FAI）、光学相干断层扫描（OCT）和眼底荧光素血管造影（FFA）。对13例患者进行了NR 2 E3突变筛查。眼底外观是可变的，从正常到典型的钱币状色素聚集在视网膜色素上皮水平的老年患者。9例患者有中心凹裂，1例有外周裂。所有患者的模式ERG均异常。在所有患者中，ISCEV标准明视和暗视反应具有相似的波形，杆特异性ERG不可检测，30 Hz闪烁ERG明显延迟，振幅低于明视a波。大多数ERG反应来自短波长敏感机制，大多数患者表现出可能的OFF相关活动。多焦ERG显示相对保存的中央功能，但减少反应增加偏心。13例患者中12例发现NR 2 E3突变，包括4例新突变。ESCS的表型是可变的，无论是在眼底外观和电生理异常的严重程度。ERG主要由短波长敏感机制控制。在大多数患者中，可能存在OFF相关的ERG活动，这通常与S-视锥细胞无关。
PURPOSE. To characterize the clinical, psychophysical, and electrophysiological phenotype of 19 patients with enhanced Scone syndrome (ESCS) and relate the phenotype to the underlying genetic mutation.METHODS. Patients underwent ophthalmic examination and functional testing including pattern ERG, full-field ERG, and long-duration and short-wavelength stimulation. Further tests were performed in some patients, including color contrast sensitivity (CCS), multifocal ERG, fundus autofluorescence imaging (FAI), optical coherence tomography (OCT), and fundus fluorescein angiography (FFA). Mutational screening of NR2E3 was undertaken in 13 patients.RESULTS. The fundus appearance was variable, from normal to typical nummular pigment clumping at the level of the retinal pigment epithelium in older patients. Nine patients had foveal schisis, and one had peripheral schisis. Pattern ERG was abnormal in all patients. In all patients, ISCEV Standard photopic and scotopic responses had a similar waveform, the rod-specific-ERG was undetectable and the 30-Hz flicker ERG was markedly delayed with an amplitude lower than the photopic a-wave. Most ERG responses arose from short-wavelength sensitive mechanisms, and a majority of patients showed possible OFF-related activity. Multifocal ERG showed relative preservation of central function, but reduced responses with increased eccentricity. Mutations were identified in NR2E3 in 12 of 13 patients including four novel variants.CONCLUSIONS. The phenotype in ESCS is variable, both in fundus appearance and in the severity of the electrophysiological abnormalities. The ERGs are dominated by short-wavelength sensitive mechanisms. The presence, in most of the patients, of possible OFF-related ERG activity is a finding not usually associated with S-cones.