Summarize the treatment of an optic nerve coloboma.Review the presentation of a patient with an optic nerve coloboma.Describe the pathophysiology of optic nerve colobomas.This activity reviews the evaluation and treatment of optic nerve coloboma and the role of the interprofessional team in managing this condition. Foldable artificial irises may also be inserted through a small incision. Iris-painted intraocular lenses may be implanted after removal of the cataract. Artificial iris prosthetic devices are being explored in the presence of pseudophakia. Surgical repair of the defect with sutures may be possible.
Cosmetic contact lenses with an artificial pupil may be used. They may also be cosmetically unacceptable. On examination the optic nerve is small.Iris colobomas may cause photophobia, visual distortion and double vision. Visual acuity can range from 20/20 to NLP. The former presents with nystagmus, whereas the latter presents with strabismus. Bilateral disease is more common than unilateral disease. Optic nerve hypoplasia is a more common cause of visual impairment in children than optic nerve coloboma. Cysts rarely expand to cause compressive optic neuropathy. Patients may have microphthalmia or optic nerve cysts that communicate with the subarachnoid space. Defects occur both unilaterally and bilaterally at equal rates. On a typical funduscopic exam, clinicians see large optic nerve excavations usually inferiorly. Optic nerve colobomas have been associated with microphthalmos, iris coloboma, ciliary coloboma, lens notching, retinal detachment, neovascular membranes, and macular holes. Colobomas are congenital ocular defects that can affect the iris, the lens, the choroid, the retina, and the optic nerve. The term coloboma derives from the Greek word koloboma, originally used to indicate a part that was removed by mutilation, missing or cut short.
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