A Case of Retinopathy–Sensory Neuropathy Syndrome With a Novel Compound Heterozygous <scp> <i>FLVCR1</i> </scp> Variant
We report a novel variant in FLVCR1 causing RETSNS. The functional assay supports the pathogenicity of the variants.
Authors
- Hiroyuki Ishiura (ORCID: https://orcid.org/0000-0003-2975-7309)
- Atsutoshi Matsuo
- Mami Takemoto (ORCID: https://orcid.org/0000-0001-6496-6582)
- Yosuke Osakada (ORCID: https://orcid.org/0000-0002-3354-0463)
- Taijun Yunoki
- Ryuta Morihara (ORCID: https://orcid.org/0000-0002-8912-0994)
- Yusuke Fukui (ORCID: https://orcid.org/0000-0002-0267-6675)
- Yuki Taira (ORCID: https://orcid.org/0000-0001-6467-5558)
- Toru Yamashita (ORCID: https://orcid.org/0000-0003-3634-5679)
- Emi M. Nomura (ORCID: https://orcid.org/0000-0003-2201-3534)
- Yumiko Nakano
- Chika Matsuoka (ORCID: https://orcid.org/0000-0002-1965-6056)
- Kentaro Deguchi
- Tomohito Kawano
Institutions
- Okayama University (JP)
- Okayama Psychiatric Medical Center (JP)
- Okayama Medical Center (JP)
Publication Details
- Journal
- Journal of the Peripheral Nervous System
- Published
- 2025-12-01
- DOI
- https://doi.org/10.1111/jns.70082
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00