The purpose of the study is to evaluate retinal involvement in a cohort of patients affected by Myotonic Dystrophy type 1 (DM1). Both eyes of 30 patients and one eye of a 31st patient with genetically proven diagnosis of DM1 and both eyes of 20 healthy age- and gender-matched subjects were enrolled. All patients underwent complete ophthalmologic examination including best-corrected visual acuity, intraocular pressure measurement, fundoscopy, fundus autofluorescence, infrared imaging and spectral-domain optical coherence tomography with central macular thickness measurement. DM1 patients showed statistically significant higher central macular thickness values than controls. In the DM1 group, butterfly (14.8%) and reticular (13.1%) pigment abnormalities were found with corresponding drusenoid deposit and focal disruption of photoreceptor and retinal pigment epithelium layers. Compared with the controls, DM1 group had higher prevalence of epiretinal membrane. In the DM1 group, the prevalence of epiretinal membrane and retinal pigment epithelium alterations were directly correlated with age, whereas no correlation was found with disease duration, CTG expansion and MIRS score. In conclusion, in addition to the typical retinal pigment epithelium changes, DM1 is also associated with abnormalities of the vitreoretinal interface, particularly epiretinal membrane, resulting in central macular thickness increase. Both inner and outer retinal alterations were associated with increasing age, suggesting that DM1 may cause a premature aging of the retina.

中文翻译：

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肌强直性营养不良的谱域光学相干断层扫描结果

该研究的目的是评估受 1 型肌强直性营养不良 (DM1) 影响的一组患者的视网膜受累情况。招募了 30 名患者的双眼和第 31 名经基因证实诊断为 DM1 的患者的一只眼睛以及 20 名年龄和性别匹配的健康受试者的双眼。所有患者均接受了完整的眼科检查，包括最佳矫正视力、眼压测量、眼底镜检查、眼底自发荧光、红外成像和带中央黄斑厚度测量的光谱域光学相干断层扫描。DM1 患者的中央黄斑厚度值在统计学上显着高于对照组。在 DM1 组中，蝴蝶 (14.8%) 和网状 (13. 1%) 发现色素异常，伴有相应的玻璃膜疣沉积物和光感受器和视网膜色素上皮层的局灶性破坏。与对照组相比，DM1组视网膜前膜发生率较高。在 DM1 组中，视网膜前膜和视网膜色素上皮改变的发生率与年龄直接相关，而与病程、CTG 扩张和 MIRS 评分没有相关性。综上所述，除典型的视网膜色素上皮改变外，DM1还与玻璃体视网膜界面异常，尤其是视网膜前膜异常有关，导致黄斑中央增厚。内部和外部视网膜改变都与年龄增长有关，这表明 DM1 可能导致视网膜过早老化。与对照组相比，DM1组视网膜前膜发生率较高。在 DM1 组中，视网膜前膜和视网膜色素上皮改变的发生率与年龄直接相关，而与病程、CTG 扩张和 MIRS 评分没有相关性。综上所述，除典型的视网膜色素上皮改变外，DM1还与玻璃体视网膜界面异常，尤其是视网膜前膜异常有关，导致黄斑中央增厚。内部和外部视网膜改变都与年龄增长有关，这表明 DM1 可能导致视网膜过早老化。与对照组相比，DM1组视网膜前膜发生率较高。在 DM1 组中，视网膜前膜和视网膜色素上皮改变的发生率与年龄直接相关，而与病程、CTG 扩张和 MIRS 评分没有相关性。综上所述，除典型的视网膜色素上皮改变外，DM1还与玻璃体视网膜界面异常，尤其是视网膜前膜异常有关，导致黄斑中央增厚。内部和外部视网膜改变都与年龄增长有关，这表明 DM1 可能导致视网膜过早老化。视网膜前膜和视网膜色素上皮改变的发生率与年龄直接相关，而与病程、CTG 扩张和 MIRS 评分没有相关性。综上所述，除典型的视网膜色素上皮改变外，DM1还与玻璃体视网膜界面异常，尤其是视网膜前膜异常有关，导致黄斑中央增厚。内部和外部视网膜改变都与年龄增长有关，这表明 DM1 可能导致视网膜过早老化。视网膜前膜和视网膜色素上皮改变的发生率与年龄直接相关，而与病程、CTG 扩张和 MIRS 评分没有相关性。综上所述，除典型的视网膜色素上皮改变外，DM1还与玻璃体视网膜界面异常，尤其是视网膜前膜异常有关，导致黄斑中央增厚。内部和外部视网膜改变都与年龄增长有关，这表明 DM1 可能导致视网膜过早老化。特别是视网膜前膜，导致黄斑中央厚度增加。内部和外部视网膜改变都与年龄增长有关，这表明 DM1 可能导致视网膜过早老化。特别是视网膜前膜，导致黄斑中央厚度增加。内部和外部视网膜改变都与年龄增长有关，这表明 DM1 可能导致视网膜过早老化。