내사시가 동반된 루빈스타인-테이비 증후군

Rubinstein-Taybi Syndrome with Esotropia

Purpose: To report a patient with Rubinstein-Taybi syndrome who had undergone bilateral medial rectus recession to correct his esotropia. Case summary: A 7-year-old male patient with long-standing esodeviation was brought to our clinic. Previously, he was diagnosed with refractive accommodative esotropia and was wearing glasses. On ophthalmologic examination, esotropia of 40 prism diopters with no limitation of ocular movement was observed by alternate prism cover test. His esodeviation did not change after full correction of hyperopia obtained with cycloplegic refraction, and was diagnosed with decompensated accommodative esotropia. The patient demonstrated mental retardation, post-natal growth deficiency, broad thumbs and halluces, and characteristic facial features such as downward slanted palpebral fissures and large deformed ears. He was diagnosed with Rubinstein-Taybi syndrome on the basis of clinical findings and confirmed by genetic testing. Decompensated accommodative esotropia of the patient was corrected to orthotropia following bilateral medial rectus muscle recession. Conclusions: Esotropia may be accompanied with a genetic disease such as Rubinstein-Taybi syndrome. In this case, refractive accommodative esotropia turned into decompensated accommodative esotropia, which was corrected with strabismus surgery.