Weaver R G, Martin T, Zanolli M D
Department of Ophthalmology, Bowman Gray School of Medicine, Wake Forest University, Winston-Salem, NC 27103.
J Pediatr Ophthalmol Strabismus. 1991 May-Jun;28(3):160-3. doi: 10.3928/0191-3913-19910501-11.
Incontinentia pigmenti achromians is a multisystem hereditary disorder characterized specifically by a whorled or streaked cutaneous hypopigmentation and frequently characterized by numerous neurologic, musculoskeletal, and ocular abnormalities. We present a patient with incontinentia pigmenti achromians in whom the ocular abnormalities included the commonly reported exotropia, myopia, small optic nerve, and hypopigmentation of the fundus, as well as rarely reported corneal asymmetry, pannus, and atropic irides with irregular pupillary margins. The patient also had a cataract in the right eye and a retinal detachment in the left eye.
无色素性色素失禁症是一种多系统遗传性疾病，其特征为皮肤呈涡状或条纹状色素减退，常伴有多种神经、肌肉骨骼和眼部异常。我们报告了一例无色素性色素失禁症患者，其眼部异常包括常见的外斜视、近视、视神经细小和眼底色素减退，以及罕见的角膜不对称、血管翳和虹膜萎缩伴瞳孔边缘不规则。该患者右眼还有白内障，左眼有视网膜脱离。
