has material basis in germline mutation in SIX6 syndromic disease hereditary disease colobomatous optic disc-macular atrophy-chorioretinopathy syndrome https://github.com/monarch-initiative/mondo/issues/6744 https://github.com/monarch-initiative/mondo/issues/6745 https://www.malacards.org/card/colobomatous_optic_disc_macular_atrophy_chorioretinopathy_syndrome https://www.malacards.org/card/optic_disc_anomalies_with_retinal_and_or_macular_dystrophy MEDGEN:894574 MESH:C565876 GARD:0017719 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:0008927 Orphanet:435930 ODRMD optic DISC anomalies with retinal and/or macular dystrophy DOID:0080635 UMLS:C4225424 OMIM:212550 disorder of visual system