1. GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN.
- Author
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Inooka T, Hayashi T, Tsunoda K, Kuniyoshi K, Kondo H, Mizobuchi K, Suga A, Iwata T, Yoshitake K, Kondo M, Goto K, Ota J, Kominami T, Nishiguchi KM, and Ueno S
- Subjects
- Humans, Male, Female, Retrospective Studies, Japan epidemiology, Adult, Middle Aged, Child, Adolescent, Young Adult, Mutation, Pedigree, Visual Acuity, Cyclic Nucleotide Phosphodiesterases, Type 6 genetics, Phenotype, Child, Preschool, Eye Proteins genetics, Aged, Electroretinography, Cyclic Nucleotide-Gated Cation Channels genetics, DNA Mutational Analysis, Color Vision Defects genetics, Color Vision Defects diagnosis, Tomography, Optical Coherence, Exome Sequencing
- Abstract
Purpose: To ascertain the characteristics of achromatopsia (ACHM) in Japan by analyzing the genetic and phenotypic features of patients with ACHM., Methods: The medical records of 52 patients from 47 Japanese families who were clinically diagnosed with ACHM were reviewed in this retrospective observational study., Results: Thirty-six causative variants of ACHM were identified in 26 families via whole-exome sequencing: PDE6C (12 families), CNGA3 (10 families), CNGB3 (two families), and GNAT2 (two families). However, none of the 6 causative variants that are known to cause ACHM, or the 275 other genes listed in RetNet, were observed in 19 families. A significant trend toward older age and worsening of ellipsoid zone disruption on optical coherence tomography images was observed (P < 0.01). Progressive ellipsoid zone disruptions were observed in 13 eyes of seven patients during the follow-up visits. These patients harbored one or more variants in PDE6C., Conclusion: The ACHM phenotype observed in this study was similar to those observed in previous reports; however, the causative gene variants differed from those in Europe. The low identification ratio of causative genes in whole-exome sequencing suggests the presence of unique hotspots in Japanese patients with ACHM that were not detectable via ordinal whole-exome sequencing.
- Published
- 2024
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