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Extraocular muscle hypoplasia associated with Axenfeld-Rieger syndrome
Milo De Decker1, Catherine Cassiman1, Ingele Casteels1
1Department of Ophthalmology, University Hospitals Leuven, Leuven.
Abstract:
We describe a four-year-old girl with bilateral severe iris hypoplasia and secondary ocular hypertension. Genetic testing revealed a de novo deletion in the FOXC1 gene, establishing the diagnosis of Axenfeld-Rieger syndrome (ARS). The girl developed a gradually increasing exotropia, up to 95 prism diopters by the age of 3 years wherefore strabismus surgery was performed. Intra-operatively, only very rudimentary developed medial and lateral rectus muscles were found. This is the first observation of pronounced hypoplasia of both medial and lateral rectus muscles associated with ARS.
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