Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

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A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome?

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