Retina (Philadelphia, Pa.)۲۰۲۴مطالعه مشاهده ای۴ استنادنمایه شده در PubMed
Taiga Inooka, Takaaki Hayashi, Kazushige Tsunoda, Kazuki Kuniyoshi, Hiroyuki Kondo, Kei Mizobuchi, Akiko Suga, Takeshi Iwata, Kazutoshi Yoshitake, Mineo Kondo, Kensuke Goto, Junya Ota, Taro Kominami, Koji M Nishiguchi, Shinji Ueno
چکیده
To ascertain the characteristics of achromatopsia (ACHM) in Japan by analyzing the genetic and phenotypic features of patients with ACHM. The medical records of 52 patients from 47 Japanese families who were clinically diagnosed with ACHM were reviewed in this retrospective observational study.…
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DOI: 10.1097/iae.0000000000004170