Foveal hypoplasia in Myhre syndrome : a novel association
- Author
- Helena Van Haecke, Eva Vanbelleghem (UGent) , Elke O. Kreps (UGent) and Bert Callewaert (UGent)
- Organization
- Project
- Abstract
- BackgroundMyhre syndrome is an autosomal dominant condition caused by pathogenic variants in the transcriptional co-regulator SMAD4. Myhre syndrome is characterized by distinctive facial features, short stature, musculoskeletal abnormalities, and intellectual disability. Reported ocular abnormalities include refractive errors, corectopia, cataract, strabismus, and pseudo) papilledema.Case reportWe describe an 8-year-old boy with Myhre syndrome due to a c.1498A > G; p.I500V pathogenic variant in SMAD4. Ocular examination revealed bilateral emmetropia, mild visual acuity reduction in the right eye (20/25), grade 1b foveal hypoplasia in both eyes and small optic discs with pseudopapilledema.ConclusionThis 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 SMAD4.
- Keywords
- Foveal hypoplasia, Myhre syndrome, SMAD4
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Citation
Please use this url to cite or link to this publication: http://hdl.handle.net/1854/LU-01KKBWMKMR315R0Q7D4P398VV0
- MLA
- Van Haecke, Helena, et al. “Foveal Hypoplasia in Myhre Syndrome : A Novel Association.” OPHTHALMIC GENETICS, vol. 46, no. 6, 2025, pp. 662–64, doi:10.1080/13816810.2025.2520408.
- APA
- Van Haecke, H., Vanbelleghem, E., Kreps, E. O., & Callewaert, B. (2025). Foveal hypoplasia in Myhre syndrome : a novel association. OPHTHALMIC GENETICS, 46(6), 662–664. https://doi.org/10.1080/13816810.2025.2520408
- Chicago author-date
- Van Haecke, Helena, Eva Vanbelleghem, Elke O. Kreps, and Bert Callewaert. 2025. “Foveal Hypoplasia in Myhre Syndrome : A Novel Association.” OPHTHALMIC GENETICS 46 (6): 662–64. https://doi.org/10.1080/13816810.2025.2520408.
- Chicago author-date (all authors)
- Van Haecke, Helena, Eva Vanbelleghem, Elke O. Kreps, and Bert Callewaert. 2025. “Foveal Hypoplasia in Myhre Syndrome : A Novel Association.” OPHTHALMIC GENETICS 46 (6): 662–664. doi:10.1080/13816810.2025.2520408.
- Vancouver
- 1.Van Haecke H, Vanbelleghem E, Kreps EO, Callewaert B. Foveal hypoplasia in Myhre syndrome : a novel association. OPHTHALMIC GENETICS. 2025;46(6):662–4.
- IEEE
- [1]H. Van Haecke, E. Vanbelleghem, E. O. Kreps, and B. Callewaert, “Foveal hypoplasia in Myhre syndrome : a novel association,” OPHTHALMIC GENETICS, vol. 46, no. 6, pp. 662–664, 2025.
@article{01KKBWMKMR315R0Q7D4P398VV0,
abstract = {{BackgroundMyhre syndrome is an autosomal dominant condition caused by pathogenic variants in the transcriptional co-regulator SMAD4. Myhre syndrome is characterized by distinctive facial features, short stature, musculoskeletal abnormalities, and intellectual disability. Reported ocular abnormalities include refractive errors, corectopia, cataract, strabismus, and pseudo) papilledema.Case reportWe describe an 8-year-old boy with Myhre syndrome due to a c.1498A > G; p.I500V pathogenic variant in SMAD4. Ocular examination revealed bilateral emmetropia, mild visual acuity reduction in the right eye (20/25), grade 1b foveal hypoplasia in both eyes and small optic discs with pseudopapilledema.ConclusionThis 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 SMAD4.}},
author = {{Van Haecke, Helena and Vanbelleghem, Eva and Kreps, Elke O. and Callewaert, Bert}},
issn = {{1381-6810}},
journal = {{OPHTHALMIC GENETICS}},
keywords = {{Foveal hypoplasia,Myhre syndrome,SMAD4}},
language = {{eng}},
number = {{6}},
pages = {{662--664}},
title = {{Foveal hypoplasia in Myhre syndrome : a novel association}},
url = {{http://doi.org/10.1080/13816810.2025.2520408}},
volume = {{46}},
year = {{2025}},
}
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