Madan Siddharth, Chaudhuri Zia
Department of Ophthalmology, University College of Medical Sciences and Associated GTB Hospital, University of Delhi, New Delhi, India.
Department of Ophthalmology, Lady Hardinge Medical College and Associated Hospitals, University of Delhi, Dr. RML Hospital and ABVIMS, New Delhi, India.
Oman J Ophthalmol. 2022 Sep 16;15(3):363-365. doi: 10.4103/ojo.ojo_194_21. eCollection 2022 Sep-Dec.
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.
色素失禁症（IP）是一种罕见的X连锁显性遗传神经皮肤综合征（在白种人人群中发病率为1:40000），男性通常致死。它常表现为皮肤、中枢神经系统和牙齿异常。色素失禁症的眼部相关表现包括眼内异常，如白瞳症、巨角膜、角膜水肿、带状角膜病变、大泡性角膜病变、虹膜角膜粘连、黄斑毛细血管缺失、周边动静脉分流、视网膜新生血管形成、玻璃体积血、视网膜前纤维化、牵拉性视网膜脱离以及斜视。我们报告一名18个月大发育迟缓的女童，诊断为色素失禁症并伴有符合韦斯特综合征三联征的婴儿痉挛症，该女童出现左眼小眼症和持续性增生性原发性玻璃体，并讨论了这种罕见的眼部表现。
