Spot Diagnosis

Eyelid Defects

Nitin S Lingayat, Geeta Karambelkar, Bratati Samantray
Department of Pediatrics, Symbiosis Medical College for Women, Lavale, Pune, India

Address for Correspondence: Dr Nitin Lingayat, 702, 2 bhk, Staff Quarters, Symbiosis Medical College for Women, Symbiosis International university Campus, Lavale, Pune.412115, India.
Email: ni3tingya@gmail.com
Keywords : coloboma, eyelid
Question :
A 9 months old male baby, born of non-consanguineous marriage presented with inability to close both eyes and defect in both upper eyelid since birth. Baby was developmentally normal with weight 8.2 kg and length 71 cm. On examination of the eyes there was a large defect on medial side of upper eyelid measuring 0.5 cm x 0.5 cm in both eyelids (Figure 1). The eyelashes were absent along the margins of the defect. Sclera, cornea, and conjunctiva were normal. Vision of both eyes was age appropriate. There was no defect in the iris. There were no signs of exposure keratitis, and the cornea was completely covered on closure of eyelids. There was no dysmorphism or other obvious congenital anomaly.

Figure 1. Upper eyelid defects and absent eyelashes
<b>Figure 1.</b> Upper eyelid defects and absent eyelashes


What is the diagnosis?

Discussion :
Congenital bilateral eyelid coloboma. It is an uncommon, unilateral, or bilateral, partial, or full-thickness eyelid defect. It is caused by failure of fusion of the mesodermal lid folds.1,2,3 They are generally located at the medial one-third of the upper eyelids (90%) and may vary from a small notch to complete defects of the eyelid.1,2,3 Colobomas are also associated with facial clefts, Goldenhar syndrome, Treacher Collins syndrome, Charge syndrome, or frontonasal dysplasia.1,2,3 The typical isolated colobomas of the eyes are rare. The incidence of the eye colobomas is between 0.5-0.7 in 10,000 births.4 They may present with other ocular and orbital anomalies such as conjunctival or limbal dermoid tumors, conjunctival chondroma, symblepharon, corneal opacities, macular or optic nerve colobomas, and strabismus.5,6 Our patient did not have any other defect.

Eyelid reconstruction at the right time is essential in these patients. This will depend on the size of the defect and on the presence of corneal exposure. If the defect is small and there is no corneal exposure, surgery could be delayed until the age of 3-4 years, when there is an increased amount of eyelid tissue.1 Otherwise, surgery should be planned as soon as possible to avoid corneal lesions.1

References :
  1. Hoyama E, Limawararut V, Malhotra R, Muecke J, Selva D. Tarsomarginal graft in upper eyelid coloboma repair. J AAPO. 2007;11:499-501.
  2. Grover AK, Chaudhuri Z, Malik S, Bageja S, Menon V. Congenital eyelid colobomas in 51 patients. J Pediatr Ophthalmol Strabismus. 2009;46:151-159.
  3. Chacon‐Camacho OF, Lopez‐Martinez MS, Vázquez J, Nava‐Castañeda A, Martin‐Biasotti F et al. Nasopalpebral Lipoma‐Coloboma syndrome: Clinical, radiological, and histopathological description of a novel sporadic case. Am J Med Genet A. 2013;161:1470-1474.
  4. Kato C, Olusegun AS. Upper Lid Coloboma-a Case Report. Euro J Med. 2015;9:150-154.
  5. Sharma A, Sukhija J, Das A, Saroha V, Sukhi S, Mohan K. Large pedunculated congenital corneal dermoid in association with eyelid coloboma. J Pediatr Ophthalmol Strabismus. 2004;41:53-55.
  6. Collin JR. Congenital upper lid coloboma. Aust N Z J Ophthalmol.1986;14:313-317.

Correct Answers : yes  100%

Last Shown : May 2021
 
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