Goldberg M F
Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD.
Ophthalmic Genet. 1994 Jun;15(2):69-76.
The ocular and cerebral abnormalities associated with incontinentia pigmenti, an X-linked dominant disease with characteristic cutaneous features, are far worse than the name would indicate. Although some patients have normal vision, total blindness or permanent visual deficiency may occur. Retinal vascular abnormalities, involving the periphery as well as the macula, appear to represent the primary disease process in the eye. Retinal detachment may then ensue, due to mechanisms that seem analogous to those of retinopathy of prematurity. Optic nerve atrophy and occipital lobe infarction are additional causes of severe visual dysfunction in some patients. For the first time, neonatal infarction of the macula is documented in this disease. The purpose of this report is to describe the visually disabling ocular and cerebral manifestations in five selected cases of incontinentia pigmenti.
色素失禁症是一种具有特征性皮肤表现的X连锁显性疾病，与之相关的眼部和脑部异常远比其名称所显示的要严重得多。虽然有些患者视力正常，但也可能出现完全失明或永久性视力缺陷。视网膜血管异常累及周边部和黄斑，似乎是眼部的主要病变过程。随后可能会发生视网膜脱离，其机制似乎与早产儿视网膜病变相似。视神经萎缩和枕叶梗死是部分患者严重视觉功能障碍的其他原因。本文首次记录了该疾病中的新生儿黄斑梗死。本报告的目的是描述色素失禁症5例特定病例中导致视力丧失的眼部和脑部表现。
