Myriad of congenital excavated optic disc anomalies in achondroplasia.

Abstract

Achondroplasia is a genetic condition resulting from specific disruptions in the formation of endochondral bone. Telecanthus, exotropia, angle anomalies and cone-rod dystrophy have been observed as associated ophthalmic features in patients with achondroplasia. Here, we present a case of achondroplasia associated with unique ocular features including telecanthus, esotropia and bilateral microphthalmos. Fundus evaluation revealed a distinctive combination of optic disc anomalies, namely, optic disc coloboma, morning glory disc and optic disc pit maculopathy, along with retroorbital cysts. This represents the first reported case of such a combination of ocular anomalies in achondroplasia.