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Authors
Nishina, Sachiko
Torii, Kaoruko
Ishitani, Shizuka
Yoshida, Tomoyo
Fukami, Maki https://orcid.org/0000-0001-9971-4035
Kurosawa, Kenji
Kosaki, Kenjiro
Saitsu, Hirotomo https://orcid.org/0000-0003-0723-0960
Ishitani, Tohru https://orcid.org/0000-0002-6200-7043
Hotta, Yoshihiro https://orcid.org/0009-0008-0093-7772
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Funding
Funding for this research was provided by:
Ministry of Health, Labour and Welfare (23FC1055, 23FC1052)
MEXT | Japan Society for the Promotion of Science (23K09041)
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Article History
Received: 8 June 2025
Revised: 15 August 2025
Accepted: 17 August 2025
First Online: 16 September 2025
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 retrospective study, which adhered to the tenets of the Declaration of Helsinki. The parents of the patient under study provided written informed consent for photographs, ophthalmic examinations under general anesthesia, genetic analysis including whole-exome sequencing, and publication of this report.
