Hereditary congenital alacrima.
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.
D000293:Adolescent; D000328:Adult; D003316:Corneal Diseases / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005452:Fluoresceins; D005838:Genotype; D006801:Humans; D007765:Lacrimal Apparatus / Q000473:pathology; D007766:Lacrimal Apparatus Diseases / Q000151:congenital / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D009388:Neostigmine; D010375:Pedigree; D013666:Tears / Q000378:metabolism*
D005452:Fluoresceins; D009388:Neostigmine