Mondino B J, Brown S I
Arch Ophthalmol. 1976 Sep;94(9):1478-84. doi: 10.1001/archopht.1976.03910040312003.
We describe a family with markedly deficient lacrimation from infancy and punctate corneal epithelial erosions. An autosomal dominant inheritance pattern is suggested. A hypoplasia of the lacrimal gland in this family was suggested by pharmacologic testing and by histopathologic examination of the lacrimal gland of the proposita. The family investigated in this report represents the first instance of hereditary congenital alacrima without associated ocular or adnexal abnormalities and apart from systemic disorders such as the Riley-Day syndrome and anhidrotic ectodermal dysplasia.
我们描述了一个自婴儿期起就有明显泪液分泌不足和点状角膜上皮糜烂的家族。提示为常染色体显性遗传模式。通过药物试验以及对先证者泪腺的组织病理学检查，提示该家族存在泪腺发育不全。本报告中所研究的这个家族代表了首例遗传性先天性无泪症，且无相关眼部或附件异常，也无诸如 Riley-Day 综合征和无汗性外胚层发育不良等全身性疾病。
