Posterior embryotoxon may not be a forme fruste of Axenfeld-Rieger’s Syndrome

Axenfeld-Rieger Syndrome is a disorder of morphogenesis which is autosomal dominantly inherited. One of the main ocular features associated with Axenfeld-Rieger is posterior embryotoxon, which is a prominent anteriorly displaced Schwalbe’s line. This can be found in up to 15% of normal eyes, without any clinical significance 1 or may represent a forme fruste of an anterior segment dysgenesis. 2 Many large case series studies of Axenfeld-Rieger had used the presence of posterior embryotoxon with iris strands extending from the peripheral iris to Schwalbe’s line, as inclusion criterion 3,4 for this condition. We report a case of Axenfeld-Rieger syndrome without posterior embryotoxon and the abnormalities of the angle, but with other features to support the diagnosis of Axenfeld-Rieger Syndrome.