Clinical and Molecular Landscape of GLRA2 in X-Linked Early-Onset High Myopia
This research expanded the mutational spectrum of GLRA2 and reveals GLRA2 as the third most frequently implicated gene for Mendelian eoHM. Truncations and highly scored missense variants in GLRA2 are pathogenic. Myopia due to GLRA2 mutations is transmitted in X-linked inheritance, manifests with mild cone impairment, and progresses to pathologic myopia.
Authors
- Xinjie Mao (ORCID: https://orcid.org/0000-0001-9446-548X)
- Shilai Xing (ORCID: https://orcid.org/0000-0002-0869-1120)
- Li‐Ya Qiao (ORCID: https://orcid.org/0000-0002-2336-0397)
- Meiping Xu (ORCID: https://orcid.org/0000-0002-8755-3091)
- Chuan Qin
- Xiaoxia Li (ORCID: https://orcid.org/0000-0002-2035-5111)
- Siyu Wang (ORCID: https://orcid.org/0000-0002-7397-6210)
- Yuhan Wang (ORCID: https://orcid.org/0000-0003-4447-5043)
- Xiaoguang Yu (ORCID: https://orcid.org/0009-0008-2818-8531)
- Ruru Chen (ORCID: https://orcid.org/0000-0001-7087-1627)
- Lan Hu (ORCID: https://orcid.org/0000-0001-9981-3084)
- Ying Mei
Institutions
- Beijing Tongren Hospital (CN)
- Capital Medical University (CN)
- Wenzhou Medical University (CN)
- Affiliated Eye Hospital of Wenzhou Medical College (CN)
- Sinotech Genomics (China) (CN)
- Beijing Shijitan Hospital (CN)
- He Eye Hospital (CN)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2025-04-14
- DOI
- https://doi.org/10.1167/iovs.66.4.30
- Citations
- 2
- Primary Topic
- Ophthalmology and Visual Impairment Studies
- Type
- article
- Field-Weighted Citation Impact
- 2.71