Korean J Ophthalmol.  2009 Mar;23(1):62-64. 10.3341/kjo.2009.23.1.62.

Anomalous Scleral Insertion of Superior Oblique in Axenfeld-Rieger Syndrome

• Park SW
• Kim HG
• Heo H
• Park YG

• KMID: 1115657
• DOI: http://doi.org/10.3341/kjo.2009.23.1.62

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.

Keyword

Axenfeld-Rieger syndrome; PITX2; Superior oblique

MeSH Terms

*Abnormalities, Multiple
Anterior Eye Segment/*abnormalities
Child, Preschool
Eye Abnormalities/*diagnosis/surgery
Eye Movements
Female
Follow-Up Studies
Humans
Oculomotor Muscles/*abnormalities/surgery
Ophthalmologic Surgical Procedures/*adverse effects
Optic Nerve/abnormalities
Postoperative Complications
Sclera/*pathology/surgery
Syndrome
Tooth Abnormalities/*genetics

Figure

• 

  Fig. 1 Photographs of the anterior segment showing corectopia, iris hypoplasia, and sclerocornea in the right (A) and left (B) eyes. The anomalous, posterior-directed, scleral insertion of the superior oblique muscle (arrowheads) and the stump of the insertion of the superior rectus (arrows) in the right eye (C).

• 

  Fig. 2 Preoperative photographs of eye motility demonstrating exotropia with A-pattern deviation and superior oblique overaction in both eyes (A). Postoperative photographs of eye motility (B).

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