Guercio Jason R, Martyn Lois J
University of Pennsylvania School of Medicine, 3450 Hamilton Walk, Philadelphia, PA 19104, USA.
Otolaryngol Clin North Am. 2007 Feb;40(1):113-40, vii. doi: 10.1016/j.otc.2006.11.013.
Congenital malformations may affect any part of the eye and the ocular adnexa. Developmental defects may occur in isolation or as part of a larger systemic malformation syndrome. Many malformations can severely impair vision, whereas others have only cosmetic significance, and still others cause no symptoms and may go undiscovered or may be noted incidentally on routine eye examination. Congenital anomalies have numerous causes, most commonly of developmental genetic origin. The genetic basis of congenital eye and orbit anomalies is just beginning to be delineated, and future research on the subject will undoubtedly broaden understanding of the developmental etiology, pathophysiology, and treatment of congenital ocular disorders.
先天性畸形可影响眼睛及眼附属器的任何部位。发育缺陷可能单独出现,也可能是更广泛的全身畸形综合征的一部分。许多畸形可严重损害视力,而其他一些畸形仅具有美容意义,还有一些则不引起症状,可能未被发现,或在常规眼科检查时偶然被注意到。先天性异常有多种原因,最常见的是发育性遗传起源。先天性眼及眼眶异常的遗传基础刚刚开始被阐明,毫无疑问,未来关于该主题的研究将拓宽对先天性眼部疾病的发育病因、病理生理学及治疗的认识。