Extraocular muscle hypoplasia associated with Axenfeld-Rieger syndrome.
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DOI: 10.1080/09273972.2021.1987926
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… read more here.
Keywords: muscle hypoplasia; extraocular muscle; rieger syndrome; axenfeld rieger ... See more keywords