Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam 13620, Republic of Korea.
Department of Ophthalmology, University of Ulsan College of Medicine, Asan Medical Center, Seoul 05505, Republic of Korea.
Genes (Basel). 2023 Feb 18;14(2):519. doi: 10.3390/genes14020519.
This multicenter study aimed to characterize Korean patients with achromatopsia. The patients' genotypes and phenotypes were retrospectively evaluated. Twenty-one patients (with a mean age at the baseline of 10.9 years) were enrolled and followed up for a mean of 7.3 years. A targeted gene panel or exome sequencing was performed. The pathogenic variants of the four genes and their frequencies were identified. and were equally the most prevalent genes: (N = 8, 38.1%), (N = 8, 38.1%), (N = 3, 14.3%), and (N = 2, 9.5%). The degree of functional and structural defects varied among the patients. The patients' age exhibited no significant correlation with structural defects. During the follow-up, the visual acuity and retinal thickness did not change significantly. In -achromatopsia patients, a proportion of patients with a normal foveal ellipsoid zone on the OCT was significantly higher than that of patients with other causative genes (62.5% vs. 16.7%; = 0.023). In -achromatopsia patients, the same proportion was significantly lower than that of patients with other causative genes (0% vs. 58.3%; = 0.003). Korean patients with achromatopsia showed similar clinical features but a higher prevalence of variants than those of other ethnic groups. The retinal phenotypes of the variants were more likely to be worse than those of other genes.
这项多中心研究旨在对韩国色盲患者进行特征分析。回顾性评估了患者的基因型和表型。共纳入 21 名患者（基线平均年龄为 10.9 岁），并平均随访 7.3 年。进行了靶向基因panel 或外显子组测序。确定了四个基因的致病变异及其频率。和是最常见的基因：（N = 8，38.1%）、（N = 8，38.1%）、（N = 3，14.3%）和（N = 2，9.5%）。患者的功能和结构缺陷程度存在差异。患者年龄与结构缺陷无显著相关性。随访期间，视力和视网膜厚度无明显变化。在 -色盲患者中，OCT 上正常光感受器椭圆带的患者比例显著高于其他致病基因患者（62.5% vs. 16.7%； = 0.023）。在 -色盲患者中，同一比例显著低于其他致病基因患者（0% vs. 58.3%； = 0.003）。韩国色盲患者具有相似的临床特征，但比其他种族的患者更常出现 变异。 变异的视网膜表型更有可能比其他基因的表型差。
