Walsh & Hoyt: Congenital Optic Disc Pigmentation

Congenital optic disc pigmentation is a condition in which melanin deposition anterior to or within the lamina cribrosa imparts a slate-gray appearance to the entire optic disc. True congenital optic disc pigmentation is extremely rare, but it has been described in a child with an interstitial deletion of chromosome 17, in Aicardi syndrome, and in optic nerve hypoplasia. Congenital optic disc pigmentation is compatible with good visual acuity but may be associated with coexistent optic disc anomalies that decrease vision. Silver and Sapiro demonstrated that, in developing mice and rats, a transient zone of melanin in the distal developing optic stalk influences migration of the earliest optic nerve axons. The effects of abnormal pigment deposition on optic nerve embryogenesis could explain the frequent coexistence of congenital optic disc pigmentation with other anomalies, particularly optic nerve hypoplasia.