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X-linked retinal dysplasia

Disease definition

A rare genetic eye disease characterized by abnormal proliferation of retinal tissue resulting in the formation of retinal folds, thereby causing gliosis and, clinically, variable degrees of visual impairment. No clinical findings other than those associated with the eyes have been demonstrated.

ORPHA:1852

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: Q14.1
  • OMIM: 312550
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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