Congenital hereditary autosomal recessive alacrima.
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.
Hegab
S M
SM
Ophthalmology Department, IBN-Sina Hospital, Kuwait.
al-Mutawa
S A
SA
D000293:Adolescent; D002648:Child; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007765:Lacrimal Apparatus / Q000378:metabolism*; D007766:Lacrimal Apparatus Diseases / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013666:Tears / Q000378:metabolism*