The Systemic Genotype-Phenotype Characterization of <i>PAX6</i>-Related Eye Disease in 164 Chinese Families
Our data indicate that foveal hypoplasia but not aniridia is the most common sign of PAX6-related disorders, contributing to subtle iris changes that might easily be overlooked in clinical practice. Recognition of mosaicism in atypical cases or parents with very mild phenotypes is important in genetic counseling as their offspring are at increased risk of typical aniridia. Recognition of the genotype-phenotype relationship emphasizes involvement of PAX6 regulation in shaping complex ocular phenotypes.
Authors
- Wenmin Sun (ORCID: https://orcid.org/0000-0003-2699-6662)
- Jiamin Ouyang
- Panfeng Wang (ORCID: https://orcid.org/0000-0002-1585-299X)
- Qingjiong Zhang (ORCID: https://orcid.org/0000-0001-7508-848X)
- Shiqiang Li (ORCID: https://orcid.org/0009-0009-1076-282X)
- Yuxi Zheng
- Xueshan Xiao
- Yi Zhen (ORCID: https://orcid.org/0000-0001-8677-5082)
- Dongwei Guo
- Yi Jiang (ORCID: https://orcid.org/0000-0002-4659-8517)
Institutions
- Sun Yat-sen University (CN)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2024-08-30
- DOI
- https://doi.org/10.1167/iovs.65.10.46
- Citations
- 4
- Primary Topic
- Cell Adhesion Molecules Research
- Type
- article
- Field-Weighted Citation Impact
- 1.53