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 Table of Contents  
CASE REPORT
Year : 2022  |  Volume : 2  |  Issue : 4  |  Page : 877-879

A rare case of congenital unilateral dry eye


Department of Ophthalmology, Vivekanand Polyclinics and Institute of Medical Sciences, Lucknow, Uttar Pradesh, India

Date of Submission22-Mar-2022
Date of Acceptance15-Jul-2022
Date of Web Publication11-Oct-2022

Correspondence Address:
Dr. Jyotsana Singh
Senior Resident, Department of Ophthalmology, Vivekanand Polyclinics and Institute of Medical Sciences, Lucknow, Uttar Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_745_22

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  Abstract 


An 18-year-old girl presented to us with complaints of redness and photophobia in her right eye. She has been on irregular treatment since 6 years of age but never got completely relieved. We did a thorough examination and relevant investigations. On magnetic resonance imaging (MRI), right side lacrimal gland agenesis was present with normal left lacrimal glands, and a diagnosis of isolated congenital unilateral lacrimal gland agenesis was made.

Keywords: Congenital, dry eye, isolated, unilateral


How to cite this article:
Chaurasia RK, Singh J, Shakeel A. A rare case of congenital unilateral dry eye. Indian J Ophthalmol Case Rep 2022;2:877-9

How to cite this URL:
Chaurasia RK, Singh J, Shakeel A. A rare case of congenital unilateral dry eye. Indian J Ophthalmol Case Rep [serial online] 2022 [cited 2022 Dec 5];2:877-9. Available from: https://www.ijoreports.in/text.asp?2022/2/4/877/358186



“Dry eye is a multifactorial disease of the ocular surface characterized by a loss of homeostasis of the tear film, and accompanied by ocular symptoms, in which tear film instability and hyperosmolarity, ocular surface inflammation and damage, and neurosensory abnormalities play etiological roles.”[1]

It can occur in association with a number of congenital, autoimmune, endocrine, and inflammatory disorders, as a spectrum of various ocular and systemic syndromes, or under certain environmental and nutritional conditions. In a few, with early detection and appropriate treatment, dry eye can be successfully treated and eliminated while in other cases, the disease may represent a lifelong problem, whose proper management can prevent ulceration and scarring of the ocular surface.

Congenital lacrimal gland agenesis is a rare cause of dry eye in childhood and is a form of primary lacrimal deficiency characterized by aplasia or hypoplasia of the principal lacrimal gland.[2]

Herein, we present a case of 18-year-old girl with congenital unilateral alacrimia and review the relevant literature.


  Case Report Top


A healthy 18-year-old female presented with 2-months history of redness and photophobia in her right eye. She reported that there is no flow of tears while crying, with a persistent feeling of dryness and irritation in her right eye. She had no symptoms of dry mouth, skin lesions, difficulty swallowing, or oral disease and denied any history of prolonged low-grade fever, weight loss, injury, burn, radiation, or surgery. No other family member had similar symptoms.

On introspection, her father gave a history of similar episodes since 6 years of age in her right eye for which she took on and off treatment at various peripheral primary care centers, but she never got complete relief and was referred to a higher center. She has not been on any treatment for the past 2 years due to coronavirus disease 2019 (COVID-19) and has lost all her past treatment records.

On examination, her best-corrected visual acuity was 20/200 in the right eye and 20/20 in the left eye. She had a normal pupillary reaction with full ocular motility, normal facial nerve function, no lagophthalmos. Corneal sensation was normal. Slit-lamp examination of the right eye showed the lids, lid margins, and puncta to be normal, as were the lid movements. Upper palpebral conjunctiva was congested, bulbar conjunctiva was dry, wrinkled with diffuse injection, and there was a loss of limbal palisades of Vogt. The cornea was lusterless, and there was superior vascularization and hypertrophy of corneal epithelium (faint corneal scar) superiorly from 11 to 1'o clock hour, with 2 × 2 mm macular to leucomatous grade corneal opacity present in the inferior third of cornea [Figure 1]. On fluorescein staining, diffuse superficial punctate keratitis was present, however, no frank epithelial defect was present [Figure 2]. The anterior chamber was quiet. Conjunctival fornix appears to be normal and there was no evidence of any papillae, filaments, keratinization, and cicatrization. Examination of the left eye was completely normal. The fundoscopic examination was unremarkable for both eyes.
Figure 1: Cornea lusterless, with vascularization and hypertrophy of corneal epithelium (faint corneal scar) superiorly from 11 to 1'o clock hour, with 2 × 2 mm macular to leucomatous grade corneal opacity present in inferior third of cornea

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Figure 2: On fluorescein staining, diffuse superficial punctate keratitis was present, however, no frank epithelial defect was present

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On dry eye Work- Up, Schirmer's test 1, (5 minutes) was <1 mm and Schirmer's test 2, (5 minutes) was 3 mm in her right eye.whereas in her left eye, it was >25 mm and 12 mm, respectively. Tear meniscus height was 0 in the right eye with 0.3 mm in the left eye. Tear Break-Up Time cannot be assessed in the right eye and 12 s in the left eye.

On systemic examination, there was no lymphadenopathy including a review of neurological and rheumatological systems, was completely normal.

Laboratory investigations gave normal results for levels of complete blood count, erythrocyte sedimentation rate (ESR), thyroid profile, viral markers, angiotensin-converting enzyme, and titers of antinuclear antibody, rheumatoid factor, as did chest radiography.

A 3-Tesla magnetic resonance examination of the orbits was performed, revealing agenesis of the right lacrimal gland and normal left lacrimal gland [Figure 3] and [Figure 4].
Figure 3: Coronal T2W MRI image of orbit shows absence of lacrimal gland with empty lacrimal fossa on right side (white arrow) and normal lacrimal gland on left side correspondingly

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Figure 4: Axial T2W with fat suppression MRI image of orbit shows absence of lacrimal gland with empty lacrimal fossa on the right side (white arrow) and normal lacrimal gland on the left side correspondingly

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We reached at a diagnosis of unilateral congenital lacrimal gland agenesis. Patient and her family members were counseled, advised lifestyle modification, and prescribed frequent instillation of lubricants. Frequent follow-ups and punctal plugs were planned for further management.


  Discussion Top


Most cases of alacrimia occur in children who are otherwise healthy and have no family history of aqueous tear deficiency. This condition tends to be congenital and bilateral. The lacrimal film is fundamental for the maintenance of a healthy ocular surface. The lipid layer of the tear film in infants is thicker than in adults, slowing evaporation, and increasing tear film stability, thereby preventing the ocular surface from drying. In addition, less ocular surface is exposed in infants.[3] The combination of these factors may explain the late presentation or relatively fewer symptoms in children even in the absence of the principal lacrimal gland, the same elucidates in our patient.

Congenital absence of the lacrimal gland is an uncommon condition, with only a few reports in the literature.[4],[5] It can be isolated in patients with hereditary congenital alacrima, or as a component of several syndromes: aplasia of lacrimal and salivary gland syndrome (ALSG syndrome), lacrimo-auriculo-dento-digital syndrome, anhidrotic ectodermal dysplasia, familial dysautonomia, congenital Sjögren's syndrome, blepharophimosis syndrome, and Allgrove's syndrome.[6],[7] None of the symptoms or signs of these syndromes were present in our patient. Acquired causes of aqueous tear deficiency can result from autoimmune conditions, radiation, metastatic and nonmetastatic infiltrative processes of the lacrimal gland, infections, injury, and medical therapy. All the above clinical differentials were ruled out in our patient. Acquired causes of aqueous tear deficiency were ruled out by relevant diagnostic tests.

As our patient presented to us at 18 years of age with unilateral dry eye, we reviewed relevant literature and found a few relevant case reports by Singh and Basu,[8] Demetriades and Seitzman,[9] and Brar et al.,[10] both possibilities were ruled out in our patient.

Based on MRI findings, we reached at the conclusion of isolated unilateral congenital lacrimal gland agenesis.


  Conclusion Top


Dry eye in the pediatric population is often overlooked because of its low prevalence, lack of physician awareness, and diagnostic limitations. All the ocular and systemic associations should be ruled out by relevant workup, systemic investigations, and close follow-ups. Isolated congenital unilateral alacrimia is a rare condition and should be considered a diagnosis of exclusion with supportive evidence on imaging. The family should be counseled about the prognosis and natural course of the disease. Long-term and multidisciplinary treatment should be undertaken to preserve ocular health and ensure the best possible vision.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Craig JP, Nichols KK, Akpek EK, Caffery B, Dua HS, Joo CK, et al. TFOS DEWS II definition and classification report. Ocul Surf 2017;15:276-83.  Back to cited text no. 1
    
2.
Milunsky JM, Lee VW, Siegel BS, Milunsky A. Agenesis or hypoplasia of major salivary and lacrimal glands. Am J Med Genet 1990;37:371-4.  Back to cited text no. 2
    
3.
Lavezzo MM, Schellini SA, Padovani CR, Hirai FE. Eye blink in new born and preschool age children. Acta Ophthalmol 2008;86:275-8.  Back to cited text no. 3
    
4.
Alwohaib M, Schellini SA, Elkhamary SM, Al Shaikh O. Isolated bilateral congenital lacrimal gland agenesis – Report of two cases. Saudi J Ophthalmol 2017;31:257-9.  Back to cited text no. 4
    
5.
Kim SH, Hwang S, Kweon S, Kim TK, Oh J. Two cases of lacrimal gland agenesis in the same family- clinic-radiological findings and management. Can J Ophthalmol 2005;40:502-5.  Back to cited text no. 5
    
6.
Allgrove J, Clayden GS, Grant DB, Macaulay JC. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet 1978;1:1284-6.  Back to cited text no. 6
    
7.
Ehrich E, Aranoff G, Johnson WG. Familial achalasia associated with adrenocortical insufficiency, alacrima, and neurological abnormalities. Am J Med Genet 1987;26:637-44.  Back to cited text no. 7
    
8.
Singh S, Basu S. Unilateral dry eye due to possible isolated parasympathetic denervation of the lacrimal gland in a woman with hypothyroidism. Cornea 2022;41:627-9.  Back to cited text no. 8
    
9.
Demetriades AM, Seitzman GD. Isolated unilateral congenital lacrimal gland agenesis presenting as filamentary keratopathy in a child. Cornea 2009;28:87-8.  Back to cited text no. 9
    
10.
Brar RK, Singh A, Deshpande AH, Gargade CB, Das S. Primary conjunctival tuberculosis presenting as dry eye: A rare case report and review of the literature. Ocul Oncol Pathol 2017;3:276-8.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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