Identification and functional validation of a novel disease‐causing variant in the noncoding region of <i>NYX</i>
To our knowledge, this is the first report describing a noncoding variant in NYX causing CSNB but lacking high myopia. These results highlight the clinical importance of screening noncoding regions of known IRD genes in genetically unsolved cases. Whether the development of high myopia in cCSNB depends on the type and location of NYX variants remains to be elucidated.
Authors
- Mathilde Gallice (ORCID: https://orcid.org/0000-0002-9539-3315)
- Christelle Michiels (ORCID: https://orcid.org/0000-0002-7193-5642)
- Aline Antonio (ORCID: https://orcid.org/0000-0001-5942-9555)
- Julien Navarro (ORCID: https://orcid.org/0009-0000-0448-5461)
- Camille Andrieu (ORCID: https://orcid.org/0009-0005-8086-4996)
Institutions
- Centre National de la Recherche Scientifique (FR)
- Institut de la Vision (FR)
- Inserm (FR)
- Centre hospitalier national d'ophtalmologie des Quinze-Vingts (FR)
- Sorbonne Université (FR)
- Hôpital Couple Enfant (FR)
- Université Grenoble Alpes (FR)
Publication Details
- Journal
- Acta Ophthalmologica
- Published
- 2026-02-23
- DOI
- https://doi.org/10.1111/aos.70094
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00