Purpose

This systematic review of case reports on congenital lacrimal gland agenesis was conducted with the overarching objective of consolidating the current evidence on congenital lacrimal gland agenesis (LGA) by characterizing its demographic and clinical spectrum, describing its syndromic associations, and evaluating this rare condition’s diagnostic and therapeutic management approaches

---

Methods

To capture all pertinent literature on the research objectives, a comprehensive search was carried out up to December, 2025, in strict adherence to the 2020 PRISMA guidelines. Eligible studies for inclusion in the review included case reports and case series documenting the incidence of congenital LGA across all populations. To adequately report on the distinctive features of congential alacrima secondary to lacrimal gland agenesis

---

Results

From 51 included studies (53 patients), the median age at diagnosis was 7 years (range 9 months–51 years), with a male predominance (62.3%). LGA was bilateral in 90.6% of cases. Cases were classified as isolated (64.2%) or syndromic (35.8%). The most common syndromic associations were Lacrimo-Auriculo-Dento-Digital (LADD) syndrome (n=7), Triple-A (Allgrove) syndrome (n=6), and Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) (n=6). Magnetic resonance imaging was the primary diagnostic modality (43.4%). Management universally involved artificial tears, with punctal occlusion employed in 77.4% of cases; advanced therapies included minor salivary gland transplantation. Salivary gland status emerged as a critical differentiator between syndromes.

---

Conclusion

Congenital LGA is a significant cause of childhood-onset severe dry eye, frequently associated with multisystem genetic disorders. A mandatory systemic evaluation, including assessment of salivary glands, is essential upon diagnosis. Management is chronic and multimodal, requiring escalation from lubrication to surgical interventions. This review synthesizes existing evidence to inform clinical recognition and proposes a diagnostic algorithm to guide multidisciplinary care.

---

Additional Authors

First name	Last name	Base Hospital / Institution
Rakan	alsahly	king khaled eye specialist hospital
fatimah	alhammad	dhahran eye specialist hospital
khawlah	alzaban	king khaled eye specialist hospital

↑ Back to top