안과적 이상을 동반한 DiGeorge 증후군 1예

• 영문명: A Case of DiGeorge Syndrome With Ocular Manifestation
• 발행기관: 대한안과학회
• 저자명: 김경민 이지웅 전보영 신재필 김시열,Kyoung Min Kim, MD, Ji Woong Lee, MD, Bo Young Chun, MD, Jae Pil Shin, MD, Si Yeol Kim, MD
• 간행물 정보: 『대한안과학회지』Ophthalmological Society,volume50,number12, 1909~1912쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2009.12.15

영문 초록

Purpose: DiGeorge syndrome (chromosome 22q11.2 deletion syndrome) is a syndrome of multiple congenital anomalies characterized by hypoplasia or aplasia of the thymus and parathyroid, cardiovascular malformation, immune deficiency, cleft palate, characteristic facial features, and hypocalcemia. Ocular findings of DiGeorge syndrome are posterior embryotoxon, retinal vascular tortuosity, strabismus, ptosis, amblyopia and tilted optic disc. The authors present a case of DiGeorge syndrome with ocular manifestation not reported previously in Korea. Case summary: A six-year old female diagnosed with DiGeorge syndrome was referred to the authors’ department within the hospital. The chief complaint was blurring vision in both eyes. Best corrected visual acuity of the right eye was 0.5 and of the left eye was 0.63. Cycloplegic refraction revealed high hyperopia and astigmatism in both eyes (OD: +7.25 Dsph; -2.5 Dcyl axis 180°, OS: +6.25 Dsph; -3.75 Dcyl axis 180°). In addition, hypertelorism, ptosis and tortuous retinal vessels during fundus examination were noted. Conclusions: Upon the initial diagnosis of DiGeorge syndrome in children, a comprehensive ocular examination is necessary because other ocular conditions may exist which can affect the visual development of the patient. J Korean Ophthalmol Soc 2009;50(12):1909-1912

키워드

Chromosome 22q11.2 deletion, Digeorge syndrome