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Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

Disease definition

Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies is a rare, genetic, retinal dystrophy disorder characterized by decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with fotophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field.

ORPHA:397758

Classification level: Disorder
  • Synonym(s):
    • Retinal dystrophy with inner nuclear layer and ganglion cell anomalies
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: H35.5
  • OMIM: 616079
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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