묘성증후군 환아 1예에서 관찰된 안과적 소견

Ocular Findings in Cri Du Chat Syndrome: A Case Report

Purpose: To report the ophthalmologic examination of an infant who has cri du chat syndome with exotropia and facial abnormalities. Case summary: A 7-month-old infant was confirmed as having cri du chat syndrome by a chromosomal study. He showed mild developmental retardation and eyeball deviation. This male infant underwent ophthalmic evaluations, including an extraocular examination, measurement of deviation, ocular movement test, interepicanthal distance, and fundus examination. As a result, facial abnormalities were found, including telecanthus and epicanthal folds. The infant had intermittent exotropia of 40 prism diopters according to the Hirschberg test and optic atrophy according to the fundus examination. Conclusions: Cri du chat syndrome manifests with many different ocular symptoms, including hypertelorism, telecanthus, epicanthal folds, and exotropia. J Korean Ophthalmol Soc 2008;49(11):1867-1870