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GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN.

Retina (Philadelphia, Pa.) - 1 Oct 2024

Inooka Taiga, Hayashi Takaaki, Tsunoda Kazushige, Kuniyoshi Kazuki, Kondo Hiroyuki, Mizobuchi Kei, Suga Akiko, Iwata Takeshi, Yoshitake Kazutoshi, Kondo Mineo, Goto Kensuke, Ota Junya, Kominami Taro, Nishiguchi Koji M, Ueno Shinji

Abstract excerpt

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...

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PMID: 39287548
DOI: 10.1097/IAE.0000000000004170

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