Congenital cavitary optic disc anomalies (CODA) include optic disc coloboma, morning glory disc anomaly, optic pit, and the papillorenal syndrome. Recently, a copy number variation upstream of matrix metalloproteinase 19 (MMP19) has been discovered in an autosomal dominant pedigree with CODA.
Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly.
