Foveal hypoplasia in Myhre syndrome: a novel association
This report marks the first reported case of foveal hypoplasia in Myhre syndrome, a potentially underreported finding, given the relative lack of OCT assessment in patients with Myhre syndrome. We discuss pathophysiological link between foveal hypoplasia and gain-of-function variants in <i>SMAD4</i>.
Authors
- Bert Callewaert (ORCID: https://orcid.org/0000-0002-9743-4205)
- Elke O. Kreps (ORCID: https://orcid.org/0000-0003-4034-0985)
- Helena Van Haecke
- Eva Vanbelleghem (ORCID: https://orcid.org/0000-0001-6380-2471)
Institutions
- Ghent University Hospital (BE)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-06-22
- DOI
- https://doi.org/10.1080/13816810.2025.2520408
- Primary Topic
- Ocular Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00