colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
A rare genetic eye disease characterized by optic disk anomalies (bilateral colobomatous optic disks, retinal vessels arising from the peripheral optic disk) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
MONDO:0024458
disorder of visual system
is_a
ODRMD
related
optic DISC anomalies with retinal and/or macular dystrophy
related