Smirnov Vasily Mikhaïlovitch, Zeitz Christina, Soumittra Nagasamy, Audo Isabelle, Defoort-Dhellemmes Sabine
Exploration of Vision and Neuro-Ophthalmology Department, Lille University Hospital, Rue Emilie Laine, 59037, Lille Cedex, France.
Faculté de Médecine, Université de Lille, 1, Place de Verdun, 59000, Lille Cedex, France.
Doc Ophthalmol. 2018 Apr;136(2):135-143. doi: 10.1007/s10633-018-9629-y. Epub 2018 Mar 10.
CABP4-related retinal dysfunction is a cone-rod synaptic transmission disorder with electronegative electroretinogram (ERG) waveform. It is a rare retinal dysfunction that can be classified into the incomplete form of congenital stationary night blindness. Absent foveal reflex and overall foveal thinning were previously reported, but in most cases the fundus appearance was described as nearly normal. We report here peculiar macular changes in a patient of French ancestry harbouring CABP4 mutations.
Complete ocular examination and full-field ERG were performed at the initial presentation and follow-up. Multimodal fundus imagining, including spectral-domain optical coherence tomography, colour, infrared reflectance and short-wavelength autofluorescence photographs, was performed during follow-up visits.
A 7-month-old infant was addressed to our department for visual unresponsiveness and nystagmus. ERG had an electronegative waveform, even for light-adapted stimuli, thus supporting the diagnosis of photoreceptor-bipolar cell transmission disorder. Genetic investigations discovered a compound heterozygous mutation in CABP4: c.646C > T, p.Arg216*/c.673C > T, p.Arg225*. Multimodal fundus imaging, performed at follow-up visits, showed fine radial folds at the vitreomacular interface and dark foveal dots in both eyes. Optic coherence tomography revealed a focal foveal ellipsoid zone gap.
Initial presentation was misleading with Leber congenital amaurosis. The electronegative ERG waveform reoriented the genetic investigations and thus establishing a correct diagnosis. To the best of our knowledge, the peculiar fundus changes observed in our patient were never reported before. We hypothesized that a foveal ellipsoid zone interruption discovered in our patient could reflect mostly a cone dysfunction. It was unclear whether the fine radial folds in both maculae were linked with high hyperopia or were an intrinsic feature of the retinal disease.
CABP4-related retinal disease is a cone-rod system disorder with possible foveal abnormalities.
与CABP4相关的视网膜功能障碍是一种伴有阴性视网膜电图（ERG）波形的视锥-视杆突触传递障碍。它是一种罕见的视网膜功能障碍，可归类为先天性静止性夜盲的不完全形式。先前曾报道过中央凹反射消失和中央凹整体变薄，但在大多数情况下，眼底外观被描述为近乎正常。我们在此报告一名具有CABP4突变的法裔患者的特殊黄斑改变。
在初次就诊和随访时进行了全面的眼部检查和全视野ERG检查。在随访期间进行了多模态眼底成像，包括光谱域光学相干断层扫描、彩色、红外反射和短波长自发荧光照片。
一名7个月大的婴儿因视觉无反应和眼球震颤前来我科就诊。ERG呈阴性波形，即使对于光适应刺激也是如此，从而支持光感受器-双极细胞传递障碍的诊断。基因检测发现CABP4存在复合杂合突变：c.646C>T，p.Arg216*/c.673C>T，p.Arg225*。随访时进行的多模态眼底成像显示，双眼玻璃体黄斑界面有细小的放射状褶皱和中央凹暗点。光学相干断层扫描显示中央凹椭圆体区有局灶性间隙。
最初的表现易与莱伯先天性黑蒙混淆。阴性ERG波形重新引导了基因检测，从而确立了正确的诊断。据我们所知，我们患者中观察到的特殊眼底改变以前从未有过报道。我们推测，在我们患者中发现的中央凹椭圆体区中断主要可能反映视锥细胞功能障碍。尚不清楚两个黄斑中的细小放射状褶皱是与高度远视有关，还是视网膜疾病的固有特征。
与CABP4相关的视网膜疾病是一种视锥-视杆系统障碍，可能伴有中央凹异常。
