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Retinal macular dystrophy type 2

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Description

Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.

ORDO

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

111

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Genes

External Links

  • OMIM

    608051

  • Orphanet

    319640

  • HPO
  • Medgen

    C0339512

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