Korean Journal of Ophthalmology  2009;23(1):62-64

doi:10.3341/kjo.2009.23.1.62

Anomalous Scleral Insertion of Superior Oblique in Axenfeld-Rieger Syndrome.

Sang Woo PARK 1 ; Hwang Gyun KIM ; Hwan HEO ; Yeoung Geol PARK

Affiliations

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Keywords

Axenfeld-Rieger syndrome; PITX2; Superior oblique

Country

Republic of Korea

Language

English

Abstract

Axenfeld-Rieger syndrome (ARS) is associated with ocular and systemic anomalies. PITX2 is known to be a major controlling gene in the pathogenesis of ARS and is associated with differentiation in both the neural crest and mesoderm during eye development. A 4-year-old girl with bilateral ARS had 20 prism diopters (PD) of exotropia with 30PD of A- pattern deviation, more than 20PD of dissociated vertical deviation (DVD), and severe superior oblique overaction (SOOA). During surgery we observed that the SO inserted more posteriorly than normal. We believe this finding is one of the abnormal manifestations of the development of the extraocular muscles in ARS.