Clinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patients
Eyes shut homolog (EYS) is the most common autosomal recessive causative gene of inherited retinal dystrophy (IRD) in the Japanese population, yet genotype-phenotype correlation data remain limited. We analyzed 291 probands (141 males, 150 females) with IRD caused by EYS (EYS-RD) from eight Japanese facilities. Clinical variables included age at onset, initial symptoms, best-corrected visual acuity (BCVA), and its progression alongside genotype information. Mean onset was 25.8 ± 14.9 years, most often night blindness (67.0%), and rod-cone dystrophy was observed in 95.9%. Initial BCVA averaged 0.34 ± 0.56 logMAR, declining 0.03 ± 0.06 logMAR/year, with low vision and blindness estimated at 48.4 and 73.6 years, respectively. Three major East Asian-specific pathogenic variants (S1653fs, Y2935X, and G843E) accounted for 88.7% of all cases. S1653fs homozygotes showed the earliest onset (mean, 18.4 years). These findings support the potential of genetic testing for personalized medicine tailored to population characteristics.
Authors
- Yukihide Momozawa (ORCID: https://orcid.org/0000-0001-5638-3504)
- Chikashi C. Terao (ORCID: https://orcid.org/0000-0002-6452-4095)
- Koji M. Nishiguchi (ORCID: https://orcid.org/0000-0001-5987-4421)
- Yusuke Murakami (ORCID: https://orcid.org/0000-0001-6820-709X)
- Masato Akiyama (ORCID: https://orcid.org/0000-0002-1879-5476)
- Kohta Fujiwara (ORCID: https://orcid.org/0000-0002-5084-8187)
- Masatoshi Fukushima
- Shuji Nakazaki
- Tomoko Kaida
- Junya Ota (ORCID: https://orcid.org/0009-0007-7124-7595)
- Satoshi Yokota (ORCID: https://orcid.org/0000-0002-7660-6303)
- Takahiro Hisai
- Mikiko Endo
- Koh-Hei Sonoda
- Takaaki Hayashi (ORCID: https://orcid.org/0000-0002-1535-0279)
- Daishi Okuda
- Yoshito Koyanagi (ORCID: https://orcid.org/0000-0001-5559-6305)
- Kaoruko Torii
- Go Mawatari (ORCID: https://orcid.org/0000-0003-4305-1660)
- Kensuke Goto (ORCID: https://orcid.org/0000-0001-5007-9384)
- Yasuhiko Hirami
- Kei Mizobuchi (ORCID: https://orcid.org/0000-0001-5389-6507)
- Yuji Inoue
- Yasuhiro Ikeda (ORCID: https://orcid.org/0000-0002-9874-7537)
- Hanae Iijima
- Kazunori Miyata (ORCID: https://orcid.org/0000-0002-0607-1390)
- Taro Kominami (ORCID: https://orcid.org/0009-0000-0612-2576)
- Hanayo Yamaga
Institutions
- Jikei University School of Medicine (JP)
- University of Miyazaki (JP)
- Kyushu University (JP)
- University of Shizuoka (JP)
- Hamamatsu University School of Medicine (JP)
- Shizuoka General Hospital (JP)
- University of Miyazaki Hospital (JP)
- Miyata Eye Hospital (JP)
- RIKEN Center for Integrative Medical Sciences (JP)
- Nagoya University (JP)
- Teikyo University (JP)
Publication Details
- Journal
- npj Genomic Medicine
- Published
- 2025-12-06
- DOI
- https://doi.org/10.1038/s41525-025-00541-0
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Japan Society for the Promotion of Science
- RIKEN