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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the eye, eyelid or lacrimal apparatus
LA13 Structural developmental anomalies of the posterior segment of eye
H02270 Cavitary optic disc anomalies
Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly.
