Variants
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Bothnia retinal dystrophy

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Description

Caused by mutation in the gene encoding retinaldehyde-binding protein-1. A high frequency of a distinctive form of retinal dystrophy was found to occur in northern Sweden. Typical manifestations are night blindness from early childhood and in young adults retinitis punctata albescens was observed followed by macular degeneration.

SNOMEDCT_US

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

2

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Genes

External Links

  • OMIM

    607475

  • Orphanet

    85128

  • HPO
  • Medgen

    C1843816

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