Clinical and Genetic Features of Korean Patients with Achromatopsia

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. 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.

Keywords: CNGA3; CNGB3; GNAT2; Korean population; PDE6C; achromatopsia.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Color Vision Defects* / genetics
  • Cyclic Nucleotide-Gated Cation Channels / genetics
  • Humans
  • Republic of Korea
  • Retrospective Studies


  • Cyclic Nucleotide-Gated Cation Channels

Supplementary concepts

  • Achromatopsia 3

Grants and funding

This research was supported by a research grant from Seoul National University’s Bundang Hospital (No. 02-2020-013 and No. 14-2018-019) and the National Research Foundation (NRF), grant 2020R1F1A107279512 and 2020R1C1C1007965, funded by the Korean government (the Ministry of Science, ICT, and Future Planning). The funding organization had no role in the design or conduct of this study.