University of Minnesota Medical School, Minneapolis, Minnesota.
VitreoRetinal Surgery, PA, Edina, Minnesota.
J AAPOS. 2020 Jun;24(3):186-188. doi: 10.1016/j.jaapos.2020.03.007. Epub 2020 Jun 6.
Adams-Oliver syndrome (AOS) is a congenital condition characterized by aplasia cutis congenita of the scalp and transverse limb defects. Other clinical features reported in association with AOS include cardiac malformations, cutis marmorata telangiectatica congenita, prenatal complications, and ophthalmic abnormalities. Reported ophthalmic manifestations range from Peters anomaly-like findings and cataract formation to incomplete or abnormal retinal vasculature, optic nerve hypoplasia, and rod dystrophy. We report the novel case of a 3-month-old boy with AOS type 2 who was found to have bilateral progressive macular ischemia.
亚当斯-奥利弗综合征(AOS)是一种先天性疾病,其特征是头皮先天无皮肤和横形肢体缺陷。与 AOS 相关的其他临床特征包括心脏畸形、先天性大理石样皮肤毛细血管扩张、产前并发症和眼部异常。报道的眼部表现从 Peters 异常样发现和白内障形成到不完全或异常的视网膜血管、视神经发育不良和视杆营养不良不等。我们报告了一例新型 3 个月大的 AOS 型 2 患儿,发现其双侧进行性黄斑缺血。