Orphanet: Colobomatous optic disc macular atrophy chorioretinopathy syndrome

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Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

Disease definition

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.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q14.8
  • OMIM: 212550
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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