시신경유두와 맥락망막결손이 동반된 루빈스타인-테이비 증후군 1예

• 영문명: A Case of Rubinstein-Taybi Syndrome with Optic Disc Coloboma and Chorioretinal Coloboma
• 발행기관: 대한안과학회
• 저자명: 이승찬 이희재 이승준,Seung Chan Lee, MD, Hui Jae Lee, MD, Seung Jun Lee, MD
• 간행물 정보: 『대한안과학회지』Ophthalmological Society,volume52,number6, 766~769쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2011.06.15

영문 초록

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 180° 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. J Korean Ophthalmol Soc 2011;52(6):766-769

키워드

Big toe, Broad thumb, Coloboma, Exotropia, Rubinstein-Taybi syndrome