Coloboma of the optic nerve head

Case contributed by Dr Aws Qahtan Hamdi

Presentation

Abnormal color appearance of left pupil in response to light in comparison with the right one, which was noticed by his mother.

Patient Data

Age: 4 months
Gender: Male
ultrasound

Discontuinity in the optic disc region with outpouching filled by vitreous, associated with intravitreous hemorrhage. 

Case Discussion

Coloboma refers to focal discontinuity in the structure of the eye, which occur due to the failure of closure of the choroidal fissure. it most commonly affects the anterior segment of the eye and less commonly the posterior segment (optic disc, retina or choroid).

It should be differentiated from staphylomas which refer to choroidal thinning.

It may be associated with other abnormalities like CHARGE syndrome, encephaloceles, Treacher-Collin syndrome, and agenesis of the corpus callosum among many others.

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