Congenital hereditary autosomal recessive alacrima

Abstract

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.

Congenital Alacrima in Pierre Robin Sequence

“…[6][7][8][9] The inheritance pattern of congenital alacrima can be either autosomal dominant or recessive. 6,10 An array of investigations including lacrimal gland neuroimaging and biopsy, conjunctival biopsy, pharmacologic stimulation tests, and other tests related to biochemical analysis of the tear film may be required to ascertain the nature of the dysfunction and its probable etiology. [6][7][8][9][10][11] The association of dysfunctional lacrimation along with the Pierre Robin sequence has not been reported to the best of our knowledge.…”

“…6,10 An array of investigations including lacrimal gland neuroimaging and biopsy, conjunctival biopsy, pharmacologic stimulation tests, and other tests related to biochemical analysis of the tear film may be required to ascertain the nature of the dysfunction and its probable etiology. [6][7][8][9][10][11] The association of dysfunctional lacrimation along with the Pierre Robin sequence has not been reported to the best of our knowledge. The association, however, may not be causally or etiologically related and might be an isolated occurrence of two unusual independent entities in a single patient.…”

Breed predisposition to congenital alacrima in dogs

“…Congenital alacrima in humans is a rare disorder that most often presents as a component of syndromes involving diffuse central nervous system or autoimmune dysfunction such as Allgrove syndrome, 10 familial autonomic dysfunction, 11 anhidrotic ectodermal dysplasia, 6 or Sjögrens syndrome 12 . Less commonly, congenital alacrima presents as an isolated finding without significant adnexal or systemic disturbances 6,13–16 . The mechanism for development of congenital alacrima is unclear.…”

“…Theories include aplasia of the superior salivary nucleus, 6 central or peripheral nervous system dysfunction, 7 and lacrimal gland aplasia or hypoplasia 6,15 . Although alacrima has been reported as an isolated congenital finding in healthy children with no family history of lacrimal secretory disorders, 6,16 it has also been shown to be inherited as an autosomal dominant or autosomal recessive trait 13 . Diagnosis is usually based on history and clinical signs.…”

“…12 Less commonly, congenital alacrima presents as an isolated finding without significant adnexal or systemic disturbances. 6,[13][14][15][16] The mechanism for development of congenital alacrima is unclear. Theories include aplasia of the superior salivary nucleus, 6 central or peripheral nervous system dysfunction, 7 and lacrimal gland aplasia or hypoplasia.…”