Meire F M, Lafaut B A, Speleman F, Hanssens M
Department of Ophthalmology, University Hospital Gent, Belgium.
Ophthalmic Genet. 1998 Dec;19(4):203-7. doi: 10.1076/opge.19.4.203.2306.
This is the second report of Norrie disease in a female patient with a de-novo balanced translocation t(X,6) with breakpoint at the location of the Norrie gene. At the age of 3 months, a girl was referred for suspected congenital glaucoma. The right eye was microphthalmic and ultrasonography was compatible with persistent hyperplasia of the primary vitreous. The left eye was also microphthalmic. The left cornea was larger than the right. The anterior chamber was virtual and leukocoria was evident. The eye felt hard digitally. Ultrasonography indicated an organized retinal detachment. The pathologic findings are reported and are compatible with Norrie disease.
这是关于一名患有新发平衡易位t(X,6)且断点位于诺里基因位置的女性患者的诺里病的第二篇报告。3个月大时，一名女孩因疑似先天性青光眼前来就诊。右眼小眼球，超声检查结果与原始玻璃体持续增生相符。左眼也是小眼球。左眼角膜比右眼角膜大。前房实际上不存在，白瞳症明显。触诊时眼睛感觉坚硬。超声检查显示有组织性视网膜脱离。报告了病理结果，与诺里病相符。
