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Abstract：
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. CNGA3 and PDE6C were equally the most prevalent genes: CNGA3 (N = 8, 38.1%), PDE6C (N = 8, 38.1%), CNGB3 (N = 3, 14.3%), and GNAT2 (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 CNGA3-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%; p = 0.023). In PDE6C-achromatopsia patients, the same proportion was significantly lower than that of patients with other causative genes (0% vs. 58.3%; p = 0.003). Korean patients with achromatopsia showed similar clinical features but a higher prevalence of PDE6C variants than those of other ethnic groups. The retinal phenotypes of the PDE6C variants were more likely to be worse than those of other genes.
摘要：
这项多中心研究旨在描述韩国色盲患者的特征。对患者的基因型和表型进行回顾性评估。21例患者（基线时平均年龄为10.9岁）入组，平均随访7.3年。进行靶向基因组或外显子组测序。确定了四个基因的致病变异及其频率。CNGA3和PDE6C同样是最普遍的基因：CNGA3（N=8，38.1%），PDE6C(N=8,38.1%),CNGB3（N=3，14.3%），和GNAT2（N=2，9.5%）。患者的功能和结构缺陷程度各不相同。患者年龄与结构缺陷无显著相关性。在后续行动中,视力和视网膜厚度无明显变化。在CNGA3-色盲患者中，OCT上中央凹椭球区正常的患者比例明显高于其他致病基因的患者(62.5%vs.16.7%；p=0.023）。在PDE6C-色盲患者中，相同比例显着低于其他致病基因的患者(0%vs.58.3%；p=0.003）。朝鲜族色盲患者表现出相似的临床特征，但PDE6C变异的患病率高于其他种族。PDE6C变体的视网膜表型更可能比其他基因的视网膜表型更差。
