Foveal hypoplasia in Myhre syndrome associated with a pathogenic SMAD4 variant: A case report
- 1Department of Ophthalmology, Quirino Memorial Medical Center, Philippines
- 2Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea
Abstract
Background: Myhre syndrome is a rare multisystem genetic disorder caused by pathogenic variants in the SMAD4 gene and characterized by distinctive craniofacial features, growth abnormalities, and connective tissue involvement. Ocular manifestations have been reported but remain incompletely characterized.
Case presentation: We report a 17-year-old male with genetically confirmed Myhre syndrome associated with a pathogenic SMAD4 variant who was referred for baseline ophthalmic evaluation. Best-corrected visual acuity was 0.5 in the right eye and 0.3 in the left eye. Slit-lamp examination revealed bilateral cortical cataracts. Fundus examination showed a dull foveal reflex in both eyes. Spectral-domain optical coherence tomography demonstrated shallow foveal depression with persistence of inner retinal layers, consistent with bilateral grade 1b foveal hypoplasia. Optical coherence tomography angiography further revealed absence of the normal foveal avascular zone in both eyes.
Conclusion: This case suggests that foveal hypoplasia may represent an additional ocular manifestation of Myhre syndrome. Multimodal retinal imaging may help identify subtle developmental abnormalities in patients with rare genetic disorders.
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BibTeX
@article{alcoreza2026foveal,
title = {{Foveal hypoplasia in Myhre syndrome associated with a pathogenic SMAD4 variant: A case report}},
author = {Angelica Aja D. Alcoreza and Junyeop Lee},
journal = {American Journal of Ophthalmology Case Reports},
year = {2026},
month = oct,
doi = {10.1016/j.ajoc.2026.102700},
url = {https://doi.org/10.1016/j.ajoc.2026.102700},
note = {CC BY-NC-ND 4.0},
}
RIS
TY - JOUR
TI - Foveal hypoplasia in Myhre syndrome associated with a pathogenic SMAD4 variant: A case report
AU - Angelica Aja D. Alcoreza
AU - Junyeop Lee
PY - 2026
DA - 2026/10/23
JO - American Journal of Ophthalmology Case Reports
DO - 10.1016/j.ajoc.2026.102700
UR - https://doi.org/10.1016/j.ajoc.2026.102700
AB - Background: Myhre syndrome is a rare multisystem genetic disorder caused by pathogenic variants in the SMAD4 gene and characterized by distinctive craniofacial features, growth abnormalities, and connective tissue involvement. Ocular manifestations have been reported but remain incompletely characterized. Case presentation: We report a 17-year-old male with genetically confirmed Myhre syndrome associated with a pathogenic SMAD4 variant who was referred for baseline ophthalmic evaluation. Best-corrected visual acuity was 0.5 in the right eye and 0.3 in the left eye. Slit-lamp examination revealed bilateral cortical cataracts. Fundus examination showed a dull foveal reflex in both eyes. Spectral-domain optical coherence tomography demonstrated shallow foveal depression with persistence of inner retinal layers, consistent with bilateral grade 1b foveal hypoplasia. Optical coherence tomography angiography further revealed absence of the normal foveal avascular zone in both eyes. Conclusion: This case suggests that foveal hypoplasia may represent an additional ocular manifestation of Myhre syndrome. Multimodal retinal imaging may help identify subtle developmental abnormalities in patients with rare genetic disorders.
SN - 2451-9936
ER -