How to Diagnose Coloboma

A coloboma is a hole in one of the eye's structures such as the eyelid, iris, lens, retina or optic disc. It is frequently a congenital defect that occurs when a choroid fissure fails to close during fetal development.

Instructions

• 1

  Observe the presenting symptoms of a coloboma. It may appear as a black, round hold in the iris or a black notch at the edge of the pupil. Patients may report blurred vision, ghost images or other vision problems.

• 2

  Gather the patient history, especially during pregnancy. Patients with coloboma frequently have other family members with a history of colobomas and other birth defects, especially in the face. A pediatrician should review any history of progressive problems with the cornea.

• 3

  Perform a complete ophthalmic assessment. This may require general anesthesia in the case of infants and possible findings include dermoid tumors in the eyelids or sclera, cataracts and defects of the eyebrows. Patients with a coloboma may occasionally have an obstruction of the lacrimal system.

• 4

  Identify any syndromes associated with coloboma. It can be a sign of many different disorders, some of them quite severe. These include Amniotic band syndrome, Franceschetti syndrome, Fraser syndrome, Goldenhar syndrome, Manitoba Oculotrichoanal syndrome and Treacher Collins syndrome.

• 5

  Conduct imaging scans as indicated. For example, a patient with a coloboma caused by Treacher Collins syndrome will need a Computed Tomography (CT) scan of the orbits and skull. Many syndromes associated with coloboma will require a Magnetic Imaging Resonance (MRI) scan of the brain and optic nerves.