Journal of Pediatric Ophthalmology and Strabismus

Short Subjects 

Unilateral Congenital Lacrimal Gland Agenesis With Contralateral Lacrimal Gland Hypoplasia

Sonali D. Talsania, MD; Caroline D. Robson, MBChB; Iason S. Mantagos, MD

Abstract

Congenital alacrima is a form of primary lacrimal deficiency characterized by aplasia or hypoplasia of the lacrimal gland. The puncta and salivary glands may also be aplastic. The case of a 5-year-old girl with congenital alacrima secondary to lacrimal gland agenesis and hypoplasia without punctal or salivary gland involvement and without other systemic comorbidities is reported. [J Pediatr Ophthalmol Strabismus. 2015;52:e52–e54.]

Abstract

Congenital alacrima is a form of primary lacrimal deficiency characterized by aplasia or hypoplasia of the lacrimal gland. The puncta and salivary glands may also be aplastic. The case of a 5-year-old girl with congenital alacrima secondary to lacrimal gland agenesis and hypoplasia without punctal or salivary gland involvement and without other systemic comorbidities is reported. [J Pediatr Ophthalmol Strabismus. 2015;52:e52–e54.]

Introduction

Congenital alacrima is a form of primary lacrimal deficiency characterized by aplasia or hypoplasia of the lacrimal gland. Because congenital alacrima can be associated with systemic comorbidities, a thorough work-up is recommended. We present a 5-year-old girl with congenital alacrima and review the relevant literature.

Case Report

A 5-year-old girl was referred to the Ophthalmology Department of Boston Children’s Hospital, Boston, Massachusetts, for alacrima. Her parents had noted since birth that she had no flow of tears when crying. The patient did not report any foreign body sensation, pain, or redness of the eyes, and was an otherwise healthy child. She had no symptoms of dry mouth, skin lesions, difficulty swallowing, or oral disease. No other family member had similar symptoms of alacrima, including the patient’s 7-year-old sister.

On examination, her visual acuity was 20/20 for each eye. Slit-lamp examination was remarkable for bilateral eyelid thickening and hyperemia, as well as conjunctival staining and corneal punctate epithelial erosions. Tear break-up time was measured as less than 2 seconds for both eyes. She could not tolerate Schirmer’s testing. Corneal sensation was intact in both eyes and the dilated funduscopic examination was unremarkable for both eyes.

She was diagnosed as having congenital alacrima and prescribed artificial tears and cyclosporine 0.05% drops. A 3T magnetic resonance examination of the orbits was performed, revealing agenesis of the left lacrimal gland and severe hypoplasia of the right lacrimal gland (Figure 1). Initial cortisol levels were found to be low at 3.8 mcg/dL (normal range: 5 to 25 mcg/dL), but adrenocorticotropic hormone levels were normal at 12 pg/mL and repeat morning cortisol level was 4 mcg/dL (normal range: 3 to 25 mcg/dL). Based on the normal adrenocorticotropic hormone level, primary adrenal insufficiency was ruled out.

(A) A high-resolution coronal T1-weighted 3T magnetic resonance image (MRI) of the orbits reveals complete absence of the left lacrimal gland and a severe hypoplasia of the right lacrimal gland (black arrow). (B) Axial three-dimensional sampling perfection with application optimized contrasts using different flip angle evolutions MRI of the superior orbits corroborates left lacrimal gland aplasia and severe hypoplasia of the right lacrimal gland (white arrow).

Figure 1.

(A) A high-resolution coronal T1-weighted 3T magnetic resonance image (MRI) of the orbits reveals complete absence of the left lacrimal gland and a severe hypoplasia of the right lacrimal gland (black arrow). (B) Axial three-dimensional sampling perfection with application optimized contrasts using different flip angle evolutions MRI of the superior orbits corroborates left lacrimal gland aplasia and severe hypoplasia of the right lacrimal gland (white arrow).

On follow-up examination with ophthalmology, the patient was still noted to have corneal epithelial erosions and tear break-up time of 4 seconds. The family had discontinued cyclosporine 0.05% because the patient experienced burning with instillation. Micro Oasis 0.4 mm silicone punctal plugs (Micro SOFT PLUG, REF6610; Oasis, Glendora, CA) were placed in both eyes. At the next follow-up visit, the punctal plugs were no longer in place and the patient developed recurrence of her symptoms including ocular irritation and redness. The tear break-up time was 3 seconds for the right eye and 2 seconds for the left eye. Attempts made to place larger 0.5 mm punctal plugs (Mini SOFT PLUG, REF6611; Oasis) were unsuccessful due to poor fit. The plugs were replaced with the original-sized plugs with symptomatic improvement.

Discussion

The differential diagnosis for congenital alacrima includes persistence of neonatal alacrima, familial dysautonomia, achalasia-addisonianism-alacrima syndrome, and absence or hypoplasia of the lacrimal gland.1 Rheumatologic disease should also be considered in the differential diagnosis for children with dry eyes. Congenital absence of the lacrimal gland is an uncommon condition, with only a few reports in the literature. It can be isolated in patients with hereditary congenital alacrima2 or it can be associated with hypoplasia or absence of the salivary glands and puncta in aplasia of the lacrimal and salivary glands syndrome (ALSG syndrome), as well as with abnormalities of the ears, teeth, and digits in lacrimo-auriculo-dento-digital syndrome. The lacrimal gland arises from surface ectoderm, with conjunctival epithelium forming five to six epithelial buds. Interaction between epithelium and mesenchymal cells is necessary for proper lacrimal gland development, and also governs salivary gland development.3 Mutations of the fibroblast growth factor 10 (FGF10) gene, which is known to be necessary for the development of both lacrimal and salivary glands in mice, have been found in association with ALSG syndrome, explaining the link between lacrimal and salivary gland aplasia.4

Patients with ALSG syndrome have a variable phenotype, presenting with absence of the major salivary glands with or without aplasia of the lacrimal gland and/or puncta. Our patient had only absence of the lacrimal gland without associated punctal abnormalities and was treated with punctal occlusion. The success of treating these patients with punctal occlusion suggests that basal tearing from the accessory lacrimal glands is intact.5 Patients with both absent lacrimal glands and puncta might present with less severe keratoconjuctivitis sicca than those with absent lacrimal glands alone.

Review of the current literature does not definitively answer this question because many of these cases have been reported in the dental or otolaryngology literature, and have not had ophthalmologic examinations. However, there is one case report of a female patient diagnosed as having ALSG initially treated with dacryocystorhinostomy for epiphora and dacryocystitis in the setting of unilateral nasolacrimal duct obstruction. She had agenesis of both puncta on the nonoperative side and lower punctal agenesis on the operated side. She subsequently developed dry eye syndrome on the operated side requiring punctal occlusion.6 The unilaterality of the symptoms suggests that the complete punctal agenesis may have been protective against dry eye syndrome.

Absence of the lacrimal gland is an uncommon finding and can be associated with other abnormalities such as punctal agenesis and salivary gland aplasia. Despite the rarity, it should be included in the differential diagnosis for congenital alacrima. Laboratory testing for primary adrenal insufficiency should be done as part of the work-up for achalasia-addisonianism-alacrima syndrome, whereas symptoms of dry mouth should prompt referral for dental care. Our patient, who denied any symptoms and was not referred until the age of 5 years, is a reminder that the clinical presentation can be mild, perhaps thanks to functional accessory lacrimal glands. Punctal occlusion in addition to lubrication appears to be successful for treatment of these patients.

References

  1. Smith Rs, Maddox SF, Collins BE. Congenital alacrima. Arch Ophthalmol. 1968;79:45–48. doi:10.1001/archopht.1968.03850040047013 [CrossRef]
  2. de la Cuadra-Blanco C, Peces-Peña M, Mérida-Velasco JR. Morphogenesis of the human lacrimal gland. J Anat. 2003;203:531–536. doi:10.1046/j.1469-7580.2003.00233.x [CrossRef]
  3. Entesarian M, Matsson H, Klar J, et al. Mutations of the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands. Nat Genet. 2005;37:125–127. doi:10.1038/ng1507 [CrossRef]
  4. Higashino H, Horii T, Ohkusa Y, et al. Congenital absence of lacrimal puncta and of all major salivary glands: case report and review of literature review. Clin Pediatr. 1987;26:366–368. doi:10.1177/000992288702600709 [CrossRef]
  5. Mondino BJ, Brown SI. Hereditary congenital alacrima. Arch Ophthalmol. 1976;94:1478–1480. doi:10.1001/archopht.1976.03910040312003 [CrossRef]
  6. Sagili S, Rene C, Russo A. Dacryocystorhinostomy precipitating keratoconjunctivitis sicca in aplasia of lacrimal and major salivary glands (ALSG). Ophthal Plast Reconstr Surg. 2011;28:e50–e51. doi:10.1097/IOP.0b013e318220863f [CrossRef]
Authors

From the Department of Ophthalmology, Boston Medical Center, Boston, Massachusetts (SDT); and the Departments of Radiology (CDR) and Ophthalmology (ISM), Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts.

The authors have no financial or proprietary interest in the materials presented herein.

Correspondence: Iason S. Mantagos, MD, 300 Longwood Ave., Fegan 4, Boston, MA 02115. E-mail: jason.mantagos@childrens.harvard.edu

Received: March 05, 2015
Accepted: June 11, 2015
Posted Online: October 16, 2015

10.3928/01913913-20151007-11

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