ABSTRACT
PURPOSE: The authors report a case of Rubinstein-Taybi syndrome with optic disc coloboma and chorioretinal coloboma. CASE SUMMARY: A 17-month-old female infant was brought to our clinic presenting exodeviation in the right eye. On cycloplegic refraction, her refractive power was -5.50 D sph -2.50 D cyl axis 180degrees in the right eye and +0.50 D sph in the left eye. On ophthalmologic examination, exotropia of 60 prism diopters with no limitation of ocular movement was observed. Fundus examination showed optic disc coloboma and chorioretinal coloboma in the right eye. The patient's physical characteristics were downward slanted palpebral fissures, long eyelashes, low set ears, and the thumb and the big toe were disproportionately broad. The patient also demonstrated delayed gait abilities. The clinical diagnosis of Rubinstein-Taybi syndrome was given. CONCLUSIONS: The authors report a child with Rubinstein-Taybi syndrome with optic disc coloboma and chorioretinal coloboma, the first to be reported in Korea.