Hypolacrimia and Alacrimia as Diagnostic Features for Genetic or Congenital Conditions

Abstract

As part of the lacrimal apparatus, the lacrimal gland participates in the maintenance of a healthy eye surface by producing the aqueous part of the tear film. Alacrimia and hypolacrimia, which are relatively rare during childhood or young adulthood, have their origin in a number of mechanisms which include agenesia, aplasia, hypoplasia, or incorrect maturation of the gland. Moreover, impaired innervation of the gland and/or the cornea and alterations of protein secretion pathways can lead to a defective tear film. In most conditions leading to alacrimia or hypolacrimia, however, the altered tear film is only one of numerous defects that arise and therefore is commonly disregarded. Here, we have systematically reviewed all of those genetic conditions or congenital disorders that have alacrimia or hypolacrimia as a feature. Where it is known, we describe the mechanism of the defect in question. It has been possible to clearly establish the physiopathology of only a minority of these conditions. As hypolacrimia and alacrimia are rare features, this review could be used as a tool in clinical genetics to perform a quick diagnosis, necessary for appropriate care and counseling.

NGLY1 deficiency: a prospective natural history study

“…Schirmer’s test for lacrimation (tear formation) and QSART assessments (sweat response) also indicated impaired functions in participants. These assessments are indicative of autonomic dysfunction in NGLY1 deficiency ( 3 , 23 , 24 ) and were generally stable or worsened over time. Insufficient tear production has an important impact on health in individuals with NGLY1 deficiency and is associated with corneal damage, including neovascularization, pannus formation and scarring ( 3 ).…”

NGLY1 Deficiency: A Prospective Natural History Study (NHS)

“…Schirmer's test for lacrimation (tear formation) and QSART assessments (sweat response) also indicated impaired functions in participants. These assessments are indicative of autonomic dysfunction in NGLY1 DeficiencyWillems 2022) and were generally stable or worsened over time. Insufficient tear production has an important impact on health in individuals with NGLY1 Deficiency and is associated with corneal damage, including neovascularization, pannus formation, and scarring.…”