DISEASE: Optic disc anomalies with retinal and/or macular dystrophy
Entry
H02231 Disease
Name
Optic disc anomalies with retinal and/or macular dystrophy
Description
Optic disc anomalies with retinal and/or macular dystrophy (ODRMD) is an autosomal recessive ocular disorder. It has been reported that a homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation.
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
H02231 Optic disc anomalies with retinal and/or macular dystrophy
