Hegab S M, al-Mutawa S A
Ophthalmology Department, IBN-Sina Hospital, Kuwait.
Ophthalmic Genet. 1996 Mar;17(1):35-8. doi: 10.3109/13816819609057867.
This report describes two phenotypically normal sisters, each married to a phenotypically normal paternal cousin. One couple had one female and one male child with alacrima; the other couple had a similarly affected girl. The keratitis sicca was manifested by punctate staining of the conjunctiva and blotchy staining of the cornea in the interpalpebral zone with fluorescein and Rose Bengal. Apart from an associated atopy in one of the children, pharmacological testing, biochemical analysis, and clinical examination suggested dysfunction of the lacrimal glands. We propose that the alacrima in this family is inherited in an autosomal recessive fashion.
本报告描述了两名表型正常的姐妹，她们各自嫁给了表型正常的父系堂兄弟。其中一对夫妇育有一个患有无泪症的女孩和一个男孩；另一对夫妇也有一个同样患病的女孩。干燥性角膜炎表现为结膜点状染色以及角膜在睑裂区用荧光素和孟加拉玫瑰红染色呈斑点状。除了其中一名儿童伴有特应性外，药理学检测、生化分析和临床检查均提示泪腺功能障碍。我们认为该家族中的无泪症是以常染色体隐性方式遗传的。
