Systemic Abnormalities in Children with Congenital Optic Disc Excavations

Abstract

The present study suggests that a systematic approach to search for any associated systemic abnormalities could be envisioned in patients presenting with congenital excavated optic discs, and particularly those presenting with abnormal vision, associated ocular defects or abnormal development.

Partially Empty Sella with Optic Disc Coloboma - Unique Association

“…Optic nerve hypoplasia, papilloedema, glaucomatous optic atrophy are some of the findings associated with empty sella syndrome [1,6] . Optic disc coloboma may be associated with rhegmatogenous retinal detachment or congenital cysts of optic nerve locally or with systemic syndromes like CHARGE, Dandy-Walker, Goldenhar syndromes [7] . The coloboma of the iris that is present in our case is usually seen in the inferonasal quadrant and is due to the failure of the embryogenic optic fissure to close during the fifth week of gestational life.…”