Clinical and Genetic Features of Korean Patients with Achromatopsia

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 pane...

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Bibliographic Details
Published in:Genes 2023-02, Vol.14 (2), p.519
Main Authors: Choi, Yong Je, Joo, Kwangsic, Lim, Hyun Taek, Kim, Sung Soo, Han, Jinu, Woo, Se Joon
Format: Article
Language:English
Subjects:
Acuity
Analysis
Atrophy
Color blindness
Color Vision Defects - genetics
Cyclic Nucleotide-Gated Cation Channels - genetics
Development and progression
Disease
Gene frequency
Genes
Genetic aspects
Genetic testing
Genotype
Genotypes
Humans
Minority & ethnic groups
Patients
Phenotype
Phenotypes
Photoreceptors
Republic of Korea
Retina
Retrospective Studies
Structure-function relationships
Visual acuity
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Description
Summary: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.
ISSN:2073-4425
2073-4425
DOI:10.3390/genes14020519