Congenital Optic Nerve Anomalies with Optical Disc Swelling

Pseudopapilledema is an abnormal elevation of the optic disc due to congenital reasons without increased intracranial pressure. The main causes of congenital optic disc swelling are optic disc drusen, myelinated retinal nerve fibers, hyaloid artery remnants, and congenital optic disc pigmentation. In the differential diagnosis of these conditions, papilledema should be firstly considered and ruled out. In pseudopapilledema, the disc swelling is localized only on the disc. There is no peripapillary nerve fiber layer edema, bleeding and exudation due to venous congestion. The disc appears normal yellow in color and the optic cupping is small or absent. There may be abnormal vascular vessels on the optic disc. These diseases are generally asymptomatic. However, it is necessary to follow up in terms of complications that may accompany, albeit rarely. In this review, congenital optic disc anomalies with optic disc swelling including optic disc drusen, myelinated retinal nerve fiber, hyaloid artery remnants and congenital optic disc pigmentation will be discussed.