Morikawa, Hazuki
Nishina, Sachiko
Torii, Kaoruko
Hosono, Katsuhiro https://orcid.org/0000-0002-7480-6133
Yokoi, Tadashi
Shigeyasu, Chika
Yamada, Masakazu
Kosuga, Motomichi
Fukami, Maki https://orcid.org/0000-0001-9971-4035
Saitsu, Hirotomo https://orcid.org/0000-0003-0723-0960
Azuma, Noriyuki
Hori, Yuichi
Hotta, Yoshihiro https://orcid.org/0000-0003-4052-5066
Funding for this research was provided by:
Ministry of Health, Labour and Welfare, Japan | Tsubame Rosai Hospital (20FC1055)
Ministry of Health, Labour and Welfare (20FC1046)
MEXT | Japan Society for the Promotion of Science (JP16K11284, JP20K09825)
Japan Agency for Medical Research and Development (JP22ek0109549)
Article History
Received: 21 January 2023
Revised: 18 February 2023
Accepted: 22 February 2023
First Online: 24 March 2023
Competing interests
: The authors declare no competing interests.
: The Institutional Review Board of the National Center for Child Health and Development and Hamamatsu University School of Medicine approved this study, which adhered to the tenets of the Declaration of Helsinki. The parents of the current patient provided written informed consent for ophthalmic examinations under general anesthesia, genetic analysis including WES, and publication of this report.