Persistent lymphopenia in a Japanese boy with neuronal ceroid lipofuscinosis type 3
This Japanese CLN3 patient developed visual impairment 7-8 years before systemic deterioration. Retinal degeneration, together with vacuolated peripheral lymphocytes, may provide early diagnostic clues for CLN3 in Japanese patients.
Authors
- Motoshi Sonoda (ORCID: https://orcid.org/0000-0003-0167-3322)
- Ayumi Sakata (ORCID: https://orcid.org/0009-0007-9262-0424)
- Yusuke Murakami (ORCID: https://orcid.org/0000-0001-6820-709X)
- Yuri Sonoda (ORCID: https://orcid.org/0000-0003-4604-2284)
- Qiaowei Liang (ORCID: https://orcid.org/0000-0002-5207-9588)
- Yasunari Sakai (ORCID: https://orcid.org/0000-0002-5747-8692)
- Pin Fee Chong (ORCID: https://orcid.org/0000-0002-2046-1360)
- Masataka Ishimura (ORCID: https://orcid.org/0000-0002-0735-6566)
- Sakurako Shimokawa
- Shouichi Ohga (ORCID: https://orcid.org/0000-0002-2426-7792)
- Kenta Kajiwara
- Yuko Ichimiya
- Yuya Kunisaki (ORCID: https://orcid.org/0000-0003-0141-7038)
- Naomichi Matsumoto (ORCID: https://orcid.org/0000-0001-9846-6500)
- Yuri Uchiyama (ORCID: https://orcid.org/0000-0002-4540-5277)
- Satoshi Akamine
- Eriko Watanabe (ORCID: https://orcid.org/0000-0003-4220-9710)
- Koh-Hei Sonoda
- Norihisa Monji
Institutions
- Kyushu University (JP)
- Yokohama City University Medical Center (JP)
- Kyushu University Hospital (JP)
- Yokohama City University Hospital (JP)
- Yokohama City University (JP)
Publication Details
- Journal
- European Journal of Medical Genetics
- Published
- 2025-11-05
- DOI
- https://doi.org/10.1016/j.ejmg.2025.105058
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00