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M. Carolina Ortube, Joseph L. Demer; Orbital Imaging In Strabismus Secondary To Saethre Chotzen Syndrome. Invest. Ophthalmol. Vis. Sci. 2011;52(14):6377.
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Saethre Chotzen syndrome is an autosomal dominant condition caused by mutation in the TWIST transcription factor gene. Affected individuals present with coronal, lambdoid and or metopic craniosynostosis; complex strabismus, ptosis, cleft palate, heart defects, syndactyly, and mental retardation. We performed orbital imaging to describe anatomy in strabismus associated with Saethre Chotzen syndrome.
We conducted high-resolution orbital imaging in children with Saethre Chotzen syndrome who had strabismus.
The first patient presented at age 4 years with V pattern exotropia and alternating hypertropia on lateral gazes. Coronal orbital MRI disclosed marked extorsion of the orbits, with inferior displacement of the lateral rectus (LR), temporal displacement of the superior rectus (SR), and nasal displacement of the inferior rectus pulleys. Strabismus surgery was performed consisting of LR recession with superior transposition, nasal transposition of the SR muscles, and myopexy of the SR and LR muscles bilaterally. At age 6 years, the child underwent fronto-orbital advancement. At 11 years of age there was orthotropia at distance and near, and a small Y pattern exotropia in extreme upgaze. The second patient presented at 2 years of age with esotropia and bilateral over-elevation in adduction. At 9 years old she had marked V pattern exotropia. Coronal CT disclosed pulley heterotopy and marked excyclorotation of the orbits. The patient underwent strabismus surgery consisting of LR recession with superior transposition, and inferior transposition of both medial rectus muscles. At age 17 years there was mild dissociated vertical deviation at distance, and orthotropia at near.
Anatomic factors promoting strabismus in Saethre Chotzen syndrome include orbital excyclorotation and pulley heterotopy. Orbital imaging may be helpful to determine the correct surgical plan in strabismus related to craniosynostosis.
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