Features:
(1) The lesion may be unilateral or bilateral.
(2) It may be
(2a) sporadic
(2b) show an autosomal dominant inheritance
(2c) show an autosomal recessive inheritance
(2d) associated with a variety of hereditary disorders (CHARGE, Lenz microphthalmia syndrome, Warburg syndrome, renal-coloboma syndrome, other).
(3) The defect may be focal or it may involve the entire optic nerve.
(4) The excavation is deeper inferiorly.
(5) The optic canal may be dilated if the entire optic nerve is involved.
Complications:
(1) cysts arising from the optic sheath
(2) peripapillary choroidal neovascularization
(3) retinal detachment (which may spontaneously reattach)
(4) strabismus
(5) decreased vision and/or significant refractive error.
