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Observational Study
. 2015 Apr;29(4):492-8.
doi: 10.1038/eye.2014.335. Epub 2015 Jan 23.

The incidence, embryology, and oculofacial abnormalities associated with eyelid colobomas

H B Smith  1 , D H Verity  1 , J R O Collin  1
Affiliations
Observational Study

The incidence, embryology, and oculofacial abnormalities associated with eyelid colobomas

H B Smith et al. Eye (Lond). 2015 Apr.

Abstract

Purpose: To describe a cohort of patients with congenital eyelid coloboma, to identify associated ocular and craniofacial abnormalities, and to establish any correlation between the size and location of eyelid colobomas and the presence of such abnormalities.

Methods: An observational case series of 55 patients with eyelid coloboma treated by a single surgeon (JROC) between 1985 and 2005.

Results: Eyelid colobomas predominantly affected the upper lids (93%), and were typically unilateral (76%). About a third (29%) were an isolated finding, with the remainder associated with other ocular (62%) and/or craniofacial (53%) abnormalities. Of those with ocular abnormalities; 19 (56%) had conjunctival traction bands, 16 (47%) choristomas, and 8 (24%) an abnormal globe. Of those with craniofacial abnormalities; 13 (45%) had Goldenhar Syndrome, 10 (35%) clefting disorders, and 4 (14%) Fraser Syndrome. Clefting disorders were typically associated with more severe colobomas and a higher incidence of conjunctival traction bands, first arch syndromes with smaller colobomas and more choristomas. Overall large colobomas were significantly associated with the presence of other craniofacial defects compared with small colobomas (P<0.01, χ(2)), but coloboma size did not correspond with the presence of other ocular abnormalities.

Conclusions: Coloboma size, location, and associations in this series are consistent with our current understanding of eyelid embryogenesis. It is likely that those colobomas associated with other craniofacial and ocular abnormalities are those which result from errors earlier in embryogenesis during eyelid specification, growth, and closure, whereas isolated colobomas arise later during eyelid separation, and after codependent structures have developed.

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Figures

Figure 1
Figure 1
Photographs demonstrating; (a) isolated coloboma, (b) Goldenhar syndrome (with right limbal dermoid, left upper lid coloboma), (c) Goldenhar syndrome (with right limbal dermoid and upper lid coloboma, left anophthalmia), (d) facial clefting with coloboma, and (e) coloboma with conjunctival traction band.
Figure 2
Figure 2
Eyelid coloboma: summary of the associated ocular; craniofacial; and systemic abnormalities.
Figure 3
Figure 3
(a) Eyelid coloboma: prevalence of associated primary ocular abnormalities. (b) Eyelid coloboma: prevalence of associated primary ocular abnormalities with (right axis) or without (left axis) craniofacial abnormalities.
Figure 4
Figure 4
Eyelid coloboma: syndromic associations.
Figure 5
Figure 5
Size of eyelid defects in isolated coloboma (left axis) compared with coloboma with associated craniofacial abnormalities (right axis).
See this image and copyright information in PMC

References

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