Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal Hypoplasia
This is the first GWAS of human foveal morphology. Our findings redefine the genetic and biological framework underlying normal foveal development and foveal hypoplasia (FH). By linking common variation to rare monogenic disease, we establish a continuum model of FH with implications for future mechanistic and clinical investigation.
Authors
- C. Anthony Hunt (ORCID: https://orcid.org/0000-0001-9372-6860)
- Jianming Shao
- Nick Shrine (ORCID: https://orcid.org/0000-0003-3641-4371)
- Pirro G. Hysi (ORCID: https://orcid.org/0000-0001-5752-2510)
- Ha-Jun Yoon (ORCID: https://orcid.org/0000-0003-0334-213X)
- Alvin Lirio
- Gail Maconachie (ORCID: https://orcid.org/0000-0001-9131-3480)
- Christopher Hammond (ORCID: https://orcid.org/0000-0001-9435-5678)
- Mervyn G. Thomas (ORCID: https://orcid.org/0000-0002-4630-1234)
- Martin D. Tobin (ORCID: https://orcid.org/0000-0002-3596-7874)
- Michel Michaelides
- Kayesha Coley (ORCID: https://orcid.org/0000-0003-4951-6799)
- Ala Moshiri (ORCID: https://orcid.org/0000-0002-4277-8094)
- Zhanhan Tu
- Omar A. Mahroo (ORCID: https://orcid.org/0000-0003-1254-0832)
- Chiara Batini (ORCID: https://orcid.org/0000-0002-7140-2985)
- Jonathan Hale Zippin (ORCID: https://orcid.org/0000-0002-5882-0189)
- Mariya Moosajee (ORCID: https://orcid.org/0000-0003-1688-5360)
- Andrew R. Webster (ORCID: https://orcid.org/0000-0001-6915-9560)
- Jun Wang (ORCID: https://orcid.org/0000-0002-2678-2456)
- Rui Chen (ORCID: https://orcid.org/0000-0002-4387-9735)
Institutions
- Moorfields Eye Hospital NHS Foundation Trust (GB)
- University of Leicester (GB)
- Baylor College of Medicine (US)
- King's College London (GB)
- University of California, Irvine (US)
- Cornell University (US)
- University Hospitals of Leicester NHS Trust (GB)
- Ulverscroft (United Kingdom) (GB)
- Sørlandet Hospital Arendal (NO)
- King's College School (GB)
- Moorfields Eye Hospital (GB)
- King's College Hospital (GB)
- University College London (GB)
- University of California, Davis (US)
- University of Sheffield (GB)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2025-09-09
- DOI
- https://doi.org/10.1167/iovs.66.12.22
- Citations
- 2
- Primary Topic
- melanin and skin pigmentation
- Type
- article
- Field-Weighted Citation Impact
- 2.30
Funders
- Research to Prevent Blindness
- National Institute for Health and Care Research
- Department of Health and Social Care
- University of Leicester
- Ulverscroft Foundation
- Moorfields Eye Hospital NHS Foundation Trust
- National Institutes of Health
- University of California, Irvine
- Medical Research Council
- NIHR Leicester Biomedical Research Centre