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Progressive cone dystrophy

Disease definition

A rare retinal dystrophy characterized by photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life.

ORPHA:1871

Classification level: Disorder
  • Synonym(s):
    • Cone dystrophy
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive or Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: H35.5
  • OMIM: 180020  300085  304030  602093  613093
  • UMLS: C0271092
  • MeSH: -
  • GARD: 11897
  • MedDRA: -

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