Axial Length Profiles in Inherited Retinal Diseases—A Genotypic and Phenotypic Analysis
Specific phenotypes correlated with longer and/or shorter AL, with genetic factors serving as an underlying determinant. Pathogenic mutations in COL2A1, RP1, and RPGR correlate with longer AL, whereas variants in BEST1 are linked to shorter AL. Collectively, these findings add evidence that certain genetic etiologies of IRDs disrupt ocular emmetropization.
Authors
- Yuqiao Ju
- Gezhi Xu (ORCID: https://orcid.org/0000-0001-8441-9690)
- Qing Chang (ORCID: https://orcid.org/0000-0003-4288-9736)
- Yuan Zong (ORCID: https://orcid.org/0000-0002-0178-990X)
- Fengjuan Gao (ORCID: https://orcid.org/0000-0002-2799-3554)
- Ting Zhang (ORCID: https://orcid.org/0000-0002-8328-8200)
- Lili Zhang (ORCID: https://orcid.org/0000-0002-4771-4970)
- Chen Duan (ORCID: https://orcid.org/0000-0002-6223-9792)
- Hangyu Li
Institutions
- University of Shanghai for Science and Technology (CN)
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Second People's Hospital of Yunnan Province (CN)
- Eye & ENT Hospital of Fudan University (CN)
- Shandong Eye Hospital (CN)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2025-10-21
- DOI
- https://doi.org/10.1167/iovs.66.13.32
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Science and Technology Commission of Shanghai Municipality
- Shanghai Hospital Development Center