Work

Foveal hypoplasia in Myhre syndrome associated with a pathogenic SMAD4 variant: A case report

Year: 2026

Type: article

Abstract: Background: gene and characterized by distinctive craniofacial features, growth abnormalities, and connective tissue involvement. Ocular manifestations have been reported but remain incompletely characterized. Case presentation: 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.

Source: American Journal of Ophthalmology Case Reports

DOI: 10.1016/j.ajoc.2026.102700

Authors: Angelica Aja D. Alcoreza, Junyeop Lee

Institutions: Asan Medical Center, University of Ulsan

Language: English

Topic: Ocular Disorders and Treatments

Subfield: Ophthalmology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,590