Ocular malformation, moyamoya dieae, and midline cranial defect: a ditinct yndrome

PURPOE: To report a 10-year-old girl with developmental anomalie of both optic dik, a chorioretinal coloboma, phenopharyngeal meningoencephalocele, and moyamoya dieae. METHOD: A full ophthalmologic examination, cranial magnetic reonance imaging and magnetic reonance angiography, and cerebral angiography were performed. REULT: The patient had a morning glory dik anomaly and microphthalmo of the right eye and optic nerve hypoplaia and retinochoroidal coloboma in the left eye. he had a midfacial cleft and an epiode of eizure and a troke. Magnetic reonance imaging howed a phenopharyngeal meningoencephalocele. Magnetic reonance angiography and cerebral angiography demontrated a pattern conitent with moyamoya dieae. CONCLUION: Thi patient had a ditinct yndrome of optic dik, retinochoroidal, and carotid circulation anomalie with midline cranial defect. The recognition and treatment of the vacular abnormalitie and cranial defect may prevent complication uch a troke that may occur during or after general anetheia