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Night blindness, congenital stationary, type1i

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Description

Congenital stationary night blindness type 1I (CSNB1I) is characterized by night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Older patients may show retinitis pigmentosa-like retinal degeneration (Stunkel et al., 2018).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

4

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Genes

External Links

  • OMIM

    618555

  • Orphanet
  • HPO
  • Medgen

    C5231408

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