Article
Foveal hypoplasia in Myhre syndrome: a novel association.
Ophthalmic genetics - 1 Dec 2025
Van Haecke Helena, Vanbelleghem Eva, Kreps Elke O, Callewaert Bert
Abstract excerpt
BACKGROUND: Myhre 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 REPORT: We describe...
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