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OPTIC NERVE COLOBOMA

Originally posted on @retina.rocks 05/09/2022

This 66YO male has mild lifelong decreased vision in his left eye. Vision was 20/70.

Triton imaging of the optic nerve coloboma shows optic nerve pits temporally and nasally, as well as a more inferior choroidal coloboma. Swept-source OCT dramatically reveals the pits.

We are following him yearly.

Learning Points:

Both optic nerve and choroidal colobomas can be unilateral or bilateral and are caused by incomplete closure of the embryonic fissure.

Patients with choroidal colobomas are at increased lifetime risk of rhegmatogenous retinal detachment due to breaks in the overlying thinned retina.

Optic nerve pits are also associated with serous macular detachment and macular neovascularization.

For a great review of cavitary optic nerve abnormalities, see Jain and Johnson, AJO 2014;158:423-435.