Optic disk anomalies with retinal and/or macular dystrophy (ODRMD) is an autosomal recessive ocular disorder characterized by optic nerve dysplasia, optic disk anomalies, chorioretinal dystrophy, and macular atrophy. Some patients may have microphthalmia. Diagnosis involve clinical features and imaging (ultrasonography and CT / MR scanning). Mild to moderate microphthalmia observed in the patients can be managed conservatively with conformers; management of other visual defects is dependent upon retinal development and ocular characteristics.
Mutations in the Sine OculisHomeobox, Drosophila, Homolog of 6 (SIX6) gene have been associated with optic disk anomalies with retinal and/or macular dystrophy. This gene encodes a member of SIX gene family, which is required for proper eye development.