Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

MONDO:0008927

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.

Also known as: ODRMD, optic DISC anomalies with retinal and/or macular dystrophy

0 clinical trials for this condition and its sub-types, 0 tagged with Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome itself.

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↑ Hereditary disease (18235) ↑ Syndromic disease (7158) ↑ Disorder of visual system (3489)

Including sub-types (0) Tagged with Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome (0)

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