Verdina Tommaso, Tsang Stephen H, Greenstein Vivienne C, Zernant Jana, Sodi Andrea, Lima Luiz H, Chang Stanley, Allikmets Rando, Menchini Ugo
Department of Specialized Surgical Sciences, Eye Clinic, University of Florence, Florence, Italy.
Department of Ophthalmology, Columbia University, New York, NY, USA ; Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.
J Clin Exp Ophthalmol. 2012 Jul 30;3. doi: 10.4172/2155-9570.1000233.
To evaluate visual function of flecked areas in a series of patients with Stargardt disease (STGD) and compare them with adjacent non flecked areas.
Twenty-seven patients with STGD, ABCA4 mutations and yellowish retinal flecks at fundus examination were recruited. Microperimetry with the Nidek MP-1 and fundus autofluorescence imaging (FAF) were performed in all the patients (27 eyes) while spectral-domain optical coherence tomography (SD-OCT) was performed in a subgroup of patients (20 eyes). Visual sensitivity (in dB) for each hyperfluorescent flecked area on FAF was compared with the value of the nearest adjacent non-flecked area in the MP-1 grid and at approximately the same distance from the fovea. Retinal structure in some of the flecked areas tested by microperimetry was analysed with SD-OCT. All patients were screened for mutations in the ABCA4 gene by APEX array and direct sequencing.
A total of 1836 locations (68 locations for each eye with the 10-2 program) were tested with the MP-1 and 97 corresponded to hyperautofluorescent flecks. A repeated measure, linear regression analysis was used to evaluate differences between visual sensitivity associated with the 97 flecked areas with those in the 97 neighbouring non-flecked areas. The difference was statistically significant (p<0.001) (flecked areas 12.89 +/- 3.86 dB vs. non-flecked areas 14.40 +/- 3.53 dB, respectively). SD-OCT in the flecked areas revealed the presence of hyperreflective dome-shaped lesions in the outer retina located at the level of the retinal pigment epithelium (RPE), with dislocation or disruption of the photoreceptor layer.
In STGD hyperfluorescent flecks on FAF are associated with decreased visual sensitivity compared to adjacent non-flecked areas and with an alteration of the photoreceptor layer on OCT. Flecks do not represent only a typical ophthalmoscopic feature but correspond, in some cases, to retinal damage that contributes to patients' visual loss.
评估一系列斯塔加特病（STGD）患者斑点区域的视觉功能，并将其与相邻的无斑点区域进行比较。
招募了27例经眼底检查确诊为STGD、ABCA4基因突变且有淡黄色视网膜斑点的患者。对所有患者（27只眼）进行了尼德克MP - 1微视野检查和眼底自发荧光成像（FAF），同时对部分患者（20只眼）进行了光谱域光学相干断层扫描（SD - OCT）。将FAF上每个高荧光斑点区域的视觉敏感度（以分贝为单位）与MP - 1网格中最近的相邻无斑点区域且距中央凹大致相同距离处的值进行比较。用SD - OCT分析了部分经微视野检查的斑点区域的视网膜结构。通过APEX阵列和直接测序对所有患者进行ABCA4基因突变筛查。
用MP - 1共检测了1836个位置（采用10 - 2程序，每只眼68个位置），其中97个位置对应高自发荧光斑点。采用重复测量线性回归分析来评估与97个斑点区域相关的视觉敏感度与97个相邻无斑点区域的视觉敏感度之间的差异。差异具有统计学意义（p<0.001）（斑点区域分别为12.89±3.86分贝，无斑点区域为14.40±3.53分贝）。斑点区域的SD - OCT显示在视网膜色素上皮（RPE）水平的外层视网膜存在高反射穹顶状病变，伴有光感受器层的脱位或破坏。
在STGD中，FAF上的高荧光斑点与相邻无斑点区域相比，视觉敏感度降低，且在OCT上光感受器层发生改变。斑点不仅是一种典型的检眼镜特征，在某些情况下还对应着导致患者视力丧失的视网膜损伤。
