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Foveal hypoplasia-presenile cataract syndrome

Disease definition

Foveal hypoplasia-presenile cataract syndrome is a rare, genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present.

ORPHA:2253

  • Synonym(s):
    • O'Donnell-Pappas syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: H26.0
  • OMIM: 136520
  • UMLS: C2931644
  • MeSH: -
  • GARD: 406
  • MedDRA: -
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