ReviewInvestigative ophthalmology & visual science2022
Hypolacrimia and Alacrimia as Diagnostic Features for Genetic or Congenital Conditions.
Review in Investigative ophthalmology & visual science, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed.
- Triple Trouble: Early Clues in the Diagnosis of Allgrove Syndrome: A Case Report.Case reports in endocrinology · 2026Article
- Coexistence of congenital lacrimal gland agenesis and congenital aniridia: Case report.American journal of ophthalmology case reports · 2025Article
- NGLY1 deficiency: a prospective natural history study.Human molecular genetics · 2023Article
- Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 cases.Molecular genetics and metabolismArticle
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Authors and funding
6 authors.
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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.
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