Sebag J, Albert D M, Craft J L
Br J Ophthalmol. 1984 Jul;68(7):494-501. doi: 10.1136/bjo.68.7.494.
A case of pigmentary retinal degeneration causing blindness in early childhood, progressive neurosensory hearing loss, diabetes mellitus, acanthosis nigricans, hypogonadism with normal secondary sex characteristics, and kyphoscoliosis without polydactyly and with no mental retardation is reported. The results of endocrinological studies, karyotype analysis, and digital dermatoglyphics supported the clinical diagnosis of the Alström syndrome. The patient had small globes, bilateral posterior subcapsular cataracts, lacy vacuolation of the iris, ciliary process hyalinisation, unilateral asteroid hyalosis, total absence of rods and cones, intraretinal melanin pigment, retinal pigment epithelium atrophy, focal chorioretinal fusion, preretinal fibrosis, bilateral giant optic disc drusen, and optic nerve atrophy. Electron microscopy of the retina demonstrated large numbers of melanolysosomes, numerous folds of basement membrane material, disruption of Bruch's membrane, and numerous bundles of extracellular collagen fibrils in the retinal pigment epithelium.
报告了一例色素性视网膜变性导致幼儿期失明、进行性神经性听力丧失、糖尿病、黑棘皮病、具有正常第二性征的性腺功能减退以及无多指畸形且无智力发育迟缓的脊柱后凸侧弯病例。内分泌学研究、核型分析和数字皮纹分析结果支持阿尔斯特伦综合征的临床诊断。该患者眼球较小，双侧后囊下白内障，虹膜呈花边状空泡形成，睫状体玻璃样变性，单侧星状玻璃体变性，完全缺乏视杆和视锥细胞，视网膜内黑色素沉着，视网膜色素上皮萎缩，局灶性脉络膜视网膜融合，视网膜前纤维化，双侧巨大视盘玻璃疣以及视神经萎缩。视网膜电子显微镜检查显示视网膜色素上皮中有大量黑素溶酶体、大量基底膜物质褶皱、布鲁赫膜破坏以及大量细胞外胶原纤维束。
