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 or may represent a forme fruste of an anterior segment dysgenesis. 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 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.
Sim
K T
KT
St Paul's Eye Unit, Royal Liverpool University Hospital, UK.
Karri
Bhavani
B
Kaye
Stephen B
SB
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D000848:Anodontia / Q000175:diagnosis*; D005124:Eye Abnormalities / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D008437:Maxilla / Q000002:abnormalities*; D012868:Skin Abnormalities / Q000175:diagnosis*; D013577:Syndrome