Nakanishi Ayami, Ueno Shinji, Kawano Kenichi, Ito Yasuki, Kominami Taro, Yasuda Shunsuke, Kondo Mineo, Tsunoda Kazushige, Iwata Takeshi, Terasaki Hiroko
Department of Ophthalmology Nagoya University Graduate School of Medicine, Nagoya, Japan.
Department of Ophthalmology, Mie University Graduate School of Medicine, Tsu, Japan.
Invest Ophthalmol Vis Sci. 2015 Nov;56(12):7243-9. doi: 10.1167/iovs.15-16742.
Occult macular dystrophy (OMD) is an inherited retinal disease characterized by a progressive decrease of vision and appearance of normal fundus. To determine the pathologic features of OMD, we investigated the alternation of the photoreceptors using quantitative image analysis.
We studied 22 eyes of 11 OMD patients. Three of them had a mutation (R45W) in RP1L1. The relative intensities of the ellipsoid zone in the spectral-domain optical coherence tomography (SD-OCT) images and the density of the cone photoreceptors in the adaptive optics (AO) fundus images of the OMD patients were compared to those of normal controls.
The relative intensities of the ellipsoid zone in the SD-OCT images of patients with OMD were significantly lower (P < 0.001) by an average of 16% compared to that of the normal controls. Normal cone mosaics were not observed in the AO images of the macula in the eyes with OMD. The mean ± SD of cone density of the 9 OMD patients was 1970 ± 884 cells/mm2 at 2°, 1124 ± 483 cells/mm2 at 3°, and 1288 ± 715 cells/mm2 at 4° nasal to the fovea. The cone densities at 2°, 3°, and 4° nasal to the fovea of OMD were significantly lower than those of the normal controls (P < 0.001).
A sparse array of cone photoreceptors with significantly reduced density of the macula is one of the morphologic features of OMD.
隐匿性黄斑营养不良（OMD）是一种遗传性视网膜疾病，其特征为视力逐渐下降且眼底外观正常。为确定OMD的病理特征，我们使用定量图像分析研究了光感受器的变化。
我们研究了11例OMD患者的22只眼睛。其中3例在RP1L1基因中有一个突变（R45W）。将OMD患者的光谱域光学相干断层扫描（SD-OCT）图像中椭圆体带的相对强度以及自适应光学（AO）眼底图像中视锥光感受器的密度与正常对照组进行比较。
与正常对照组相比，OMD患者SD-OCT图像中椭圆体带的相对强度显著降低（P < 0.001），平均降低16%。在患有OMD的眼睛的黄斑区AO图像中未观察到正常的视锥镶嵌。9例OMD患者视锥密度的平均值±标准差在黄斑中心凹鼻侧2°处为1970 ± 884个细胞/mm²，3°处为1124 ± 483个细胞/mm²，4°处为1288 ± 715个细胞/mm²。OMD患者在黄斑中心凹鼻侧2°、3°和4°处的视锥密度显著低于正常对照组（P < 0.001）。
视锥光感受器排列稀疏且黄斑密度显著降低是OMD的形态学特征之一。
