PDF(Pubmed)
Abstract：
Incontinentia pigmenti (IP) is a rare neurocutaneous syndrome of X-linked dominant inheritance (1:40000 births in the Caucasian population) which is usually lethal in males. It commonly presents with skin, central nervous system, and dental anomalies. Ophthalmic associations of IP include intra-ocular anomalies such as leukocoria, megalocornea, corneal edema, band keratopathy, bullous keratopathy, iridocorneal attachments, macular capillary dropout, peripheral arteriovenous shunts, retinal neovascularization, vitreous hemorrhage, preretinal fibrosis, traction retinal detachment as well as strabismus. We report an 18-month-old developmentally delayed female child with diagnosed IP and infantile spasms conforming to the west syndrome triad, who presented with left eye microphthalmia and persistent hyperplastic primary vitreous and discuss this rare ophthalmic presentation.
摘要：
色素不连续症（IP）是X连锁显性遗传的一种罕见神经皮肤综合征（白种人中的1：40000出生），通常在男性中致命。它通常表现为皮肤，中枢神经系统,和牙齿异常。IP的眼科关联包括眼内异常，例如白细胞增多症，巨角膜,角膜水肿,带状角膜病变,大疱性角膜病变,虹膜角膜附件，黄斑毛细血管脱落，外周动静脉分流,视网膜新生血管,玻璃体出血,视网膜前纤维化,牵引视网膜脱离以及斜视。我们报告了一名18个月大的发育迟缓的女性儿童，诊断为IP和婴儿痉挛符合西方综合症三联症，他出现了左眼小眼症和持续的原发性玻璃体增生，并讨论了这种罕见的眼科表现。
