Ciralsky Jessica, Colby Kathryn
Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, 243 Charles Street, Boston, MA 02114, USA.
Semin Ophthalmol. 2007 Oct-Dec;22(4):241-6. doi: 10.1080/08820530701745157.
Congenital corneal opacities present in approximately 3/100,000 newborns. Many different disorders may result in corneal opacifications of infancy, including Peters' anomaly (PA), congenital hereditary endothelial dystrophy (CHED), congenital hereditary stromal dystrophy (CHSD) and posterior polymorphous dystrophy (PPMD). Current studies have localized defects using genetic testing in PA, CHED, CHSD and PPMD. Identifying mutations for specific disorders may lead to better understanding of the underlying pathogeneses and may help with diagnosis and prognosis. This article will review the clinical presentations, treatments and genetics of Peters' anomaly, congenital hereditary endothelial dystrophy, congenital hereditary stromal dystrophy and posterior polymorphous dystrophy.
先天性角膜混浊在每100,000名新生儿中约有3例出现。许多不同的病症可能导致婴儿期角膜混浊，包括彼得斯异常（PA）、先天性遗传性内皮营养不良（CHED）、先天性遗传性基质营养不良（CHSD）和后极性多形性营养不良（PPMD）。目前的研究已通过基因检测定位了PA、CHED、CHSD和PPMD中的缺陷。确定特定病症的突变可能有助于更好地理解潜在的发病机制，并有助于诊断和预后。本文将综述彼得斯异常、先天性遗传性内皮营养不良、先天性遗传性基质营养不良和后极性多形性营养不良的临床表现、治疗方法和遗传学。
