• Users Online: 536
  • Print this page
  • Email this page


 
 Table of Contents  
CASE REPORT
Year : 2021  |  Volume : 59  |  Issue : 3  |  Page : 310-312

Isolated alacrimia associated with microblepharon


1 Cornea and Refractive Services, Aravind Eye Hospital, Tirunelveli, Tamil Nadu, India
2 Paediatric and Strabismus Department, Aravind Eye Hospital, Tirunelveli, Tamil Nadu, India
3 Department of Anaesthesia, Tirunelveli Medical College Hospital, Tirunelveli, Tamil Nadu, India

Date of Submission09-Jun-2020
Date of Decision21-Sep-2020
Date of Acceptance14-Oct-2020
Date of Web Publication09-Sep-2021

Correspondence Address:
Dr. Venugopal Anitha
Aravind Eye Hospital, Tirunelveli, Tamil Nadu
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/tjosr.tjosr_70_20

Get Permissions

  Abstract 


Isolated alacrimia is a rare condition often reported with salivary gland agenesis in the literature. Children with the isolated absence of the lacrimal gland can have normal tear film but not during emotional stimuli. Microblepharon is a congenital anomaly with abnormally small eyelids due to vertical shortening, which leads to incomplete blink, exposure keratopathy, and corneal ulceration. The combined occurrence of both the conditions in our case led to ocular surface keratinization and visual impairment. Here, we report a case of isolated lacrimal gland agenesis in association with microblepharon in a 2-year-old child.

Keywords: Lacrimal gland agenesis, microblepharon, tarsorrhaphy


How to cite this article:
Anitha V, Ravindran M, Karthikeyan V. Isolated alacrimia associated with microblepharon. TNOA J Ophthalmic Sci Res 2021;59:310-2

How to cite this URL:
Anitha V, Ravindran M, Karthikeyan V. Isolated alacrimia associated with microblepharon. TNOA J Ophthalmic Sci Res [serial online] 2021 [cited 2021 Sep 21];59:310-2. Available from: https://www.tnoajosr.com/text.asp?2021/59/3/310/325741




  Introduction Top


The congenital lacrimal gland agenesis is a rare cause of dry eyes in children. During embryogenesis, lacrimal gland develops from the ectoderm of superior conjunctival fornix, later interaction between epithelial and mesenchymal cells is necessary for proper lacrimal gland development, but full differentiation occurs 3–4 years of life. Any structural alterations in the early intrauterine life can cause lacrimal gland agenesis.[1] Neural crest-derived cells contribute to the connective tissue of the eyelids.[2] The upper and lower eyelids fuse at 9–10 weeks of gestation.[3] The partial or complete failure of ectodermal–mesenchymal induction could result in microblepharon or ablepharon.[2] The first report of ablepharon in association with macrostomia was described by McCarthy in 1977.[4] The incidence of microblepharon is rare, with a report of 20 cases in the literature.[3] Here, we report a case of isolated lacrimal gland agenesis with microblepharon.


  Case Report Top


A 2-year-old male child was brought to our clinic by his mother, who complained of the child's inability to close both eyes and brownish discoloration of both eyes since birth. The child was born to parents of nonconsanguineous marriage, delivered at term by uneventful cesarean section. TORCH screening and karyotyping were done and reported to be normal. The child had facial dysmorphism, light perception, and useful navigational vision with both eyes open. Slit-lamp examination of both eyes revealed the loss of eyelashes, bilateral microblepharon, and complete keratinization of the ocular surface with lusterless, leukomatous scarring of the cornea, the right eye more than the left, nystagmus, and incomplete blink reflex. Puncta on all four sides were absent [Figure 1]a.
Figure 1: (a) Severe ocular surface keratinization and microblepharon. (b) After medial and lateral tarsorrhaphy

Click here to view


On examination under anesthesia, the corneal diameter was not accurately measured in the right eye due to severe keratinization, while in the left, it was 11.5 mm. The intraocular pressure by digital palpation was normal in both eyes. The details of the right eye's anterior segment were hazy due to keratinization, while the left eye showed anterior lenticular opacity. Ultrasonography was within normal limits in both eyes. Orbital magnetic resonance imaging (MRI) revealed bilateral agenesis of the lacrimal gland with normal salivary glands [Figure 2]. Conjunctival biopsy revealed squamous metaplasia with parakeratosis [Figure 3]. Examination by a pediatrician ruled out other systemic anomalies. The inability to close the eyes, exposure, and inadequate tears caused severe keratinization of the ocular surface. Initially, Vitamin A supplementation and lubricants were tried. It was a challenge for us to maintain the functional vision as an immediate step. Bilateral medial and lateral tarsorrhaphy with the central opening of the interpalpebral aperture was done to protect the ocular surface from further damage [Figure 1]b. At present, the child has a stable ocular surface and retained navigational vision.
Figure 2: Orbital magnetic resonance imaging showing axial T1W1 with absence of both lacrimal gland and empty lacrimal fossa

Click here to view
Figure 3: Conjunctival biopsy showing squamous metaplasia with parakeratosis

Click here to view



  Discussion Top


Congenital alacrimia is inherited as an autosomal recessive or autosomal dominant pattern. Mondino and Brownet described the autosomal dominant inheritance of congenital alacrimia in their case series.[5] Autosomal-dominant conditions associated with lacrimal gland aplasia include lacrimo-auriculo-dento-digital syndrome and autosomal-dominant aplasia of the lacrimal and salivary glands.[6] We found no identifiable inheritance pattern in our patient. Mutations of fibroblastic growth factor 10 gene are associated with aplasia of the lacrimal gland and salivary gland.[7] Caccamise and Townes[8] reported the absence of lacrimal puncta, congenital alacrimia, and lack of salivation in a 9-year-old child. The youngest age being reported in the literature was 5 years;[7] our patient age is two. Many case reports of combined agenesis of the lacrimal gland and salivary glands were reported by Milunsky et al.[9] and Ferreira et al.[10] As a differential diagnosis of dry eyes in childhood, isolated congenital alacrimia was reported by Sahinoglu et al.[11] The prognosis of isolated congenital alacrimia alone is usually good. Life expectancy is average since the thick tear lipid layer in children protects the ocular surface from drying compared to adults.[7] In our case, microblepharon, in association with isolated alacrimia, resulted in poor visual prognosis.

Microblepharon may be associated with other developmental lid anomalies, including ectropion, absence of the puncta, and tetrastichiasis. The primary deformity may prevent the eyelids' adequate closure even with effort, leading to significant keratitis or corneal ulceration. The earliest report (1737) of microblepharon in a stillborn child with anomalies of the limbs, genitals, anus, face, and skull was done by Friderici.[12] Reports on ablepharon-macrostomia is more common than primary microblepharon.[2] Our case is a peculiar one with a rare association of isolated congenital alacrimia and primary microblepharon. The absence of all four lacrimal puncta and exposure of the ocular surface led to the pathological events of corneal scarring and keratinization in the early stages of life. Thomas et al. reported adult-onset Allgrove syndrome in a patient with presumed alacrimia as a first sign.[13] The association with microblepharon with lacrimal gland aplasia has not been previously reported in the literature.

In this case, our clinical challenge is to maintain functional visual acuity and mobility of the child. Bilateral medial and lateral tarsorrhaphy for the microblepharon and frequent lubrication for the ocular surface provided a better option to maintain a stable ocular surface. If the patient had presented earlier, before ocular surface keratinization, bilateral skin grafts[3] for the upper eyelid would have avoided the permanent loss of vision.


  Conclusion Top


Our case emphasizes a rare association of congenital alacrimia and microblepharon and alternate methods of treatment. Noninvasive techniques such as MRI may help in early diagnosis of lacrimal gland agenesis. The treatment modality depends on the time of ophthalmic consultation. Initial presentation and prompt treatment with bilateral skin grafts would have prevented the ocular surface's keratinization in our case. Due to patient's late presentation, our management aimed to protect the ocular surface from further damage by performing tarsorrhaphy and preserving the navigational 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.
de la Cuadra-Blanco C, Peces-Peña MD, Mérida-Velasco JR. Morphogenesis of the human lacrimal gland. J Anat 2003;203:531-6.  Back to cited text no. 1
    
2.
Price NJ, Pugh RE, Farndon PA, Willshaw HE. Ablepharon macrostomia syndrome. Br J Ophthalmol 1991;75:317-9.  Back to cited text no. 2
    
3.
Merriam JC, Stalnecker MC, Merriam GR Jr. Reconstruction of the lids of a child with microblepharon and multiple congenital anomalies. Trans Am Ophthalmol Soc 1988;86:55-93.  Back to cited text no. 3
    
4.
McCarthy GT, West CM. Ablepheron macrostomia syndrome. Dev Med Child Neurol 1977;19:659-63.  Back to cited text no. 4
    
5.
Mondino BJ, Brown SI. Hereditary congenital alacrima. Arch Ophthalmol 1976;94:1478-84.  Back to cited text no. 5
    
6.
Santo RO, Golbert MB, Akaishi PM, Cruz AA, Cintra MB. Giant dacryocystocele and congenital alacrimia in lacrimo-auriculo-dento-digital syndrome. Ophthalmic Plast Reconstr Surg 2013;29:e67-8.  Back to cited text no. 6
    
7.
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. 7
    
8.
Caccamise WC, Townes PL. Congenital absence of the lacrimal puncta associated with alacrima and aptyalism. Am J Ophthalmol 1980;89:62-5.  Back to cited text no. 8
    
9.
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. 9
    
10.
Ferreira AP, Gomez RS, Castro WH, Calixto NS, Silva RA, Aguiar MJ. Congenital absence of lacrimal puncta and salivary glands: Report of a Brazilian family and review. Am J Med Genet 2000;94:32-4.  Back to cited text no. 10
    
11.
Sahinoglu N, Tuncer S, Alparslan N, Peksayar G. Isolated form of congenital bilateral lacrimal gland agenesis. Indian J Ophthalmol 2011;59:522-3.  Back to cited text no. 11
[PUBMED]  [Full text]  
12.
Bates A. A case of Roberts syndrome described in 1737 [10]. Journal of medical genetics. 2001,1;38:565-7.   Back to cited text no. 12
    
13.
Thomas J, Subramanyam S, Vijayaraghavan S, Bhaskar E. Late onset adrenal insufficiency and achalasia in Allgrove syndrome. BMJ Case Rep 2015;2015:bcr2014208900.  Back to cited text no. 13
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

Top
 
 
  Search
 
Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
Access Statistics
Email Alert *
Add to My List *
* Registration required (free)

 
  In this article
Abstract
Introduction
Case Report
Discussion
Conclusion
References
Article Figures

 Article Access Statistics
    Viewed50    
    Printed0    
    Emailed0    
    PDF Downloaded6    
    Comments [Add]    

Recommend this journal


[TAG2]
[TAG3]
[TAG4]