Variants
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Congenital stationary night blindness 1A

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Description

X-linked congenital stationary night blindness (CSNB) is characterized by non-progressive retinal findings of reduced visual acuity ranging from 20/30 to 20/200; defective dark adaptation; refractive error, most typically myopia ranging from low (-0.25 diopters [D] to -4.75 D) to high (=-10.00 D) but occasionally hyperopia; nystagmus; strabismus; normal color vision; and normal fundus examination. Characteristic ERG findings can help distinguish between complete X-linked CSNB and incomplete X-linked CSNB.

GeneReviews

  • Mode of Inheritance

  • X-linked recessive inheritance
  • X-linked inheritance

VARIANTS

33

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Genes

External Links

  • OMIM

    310500

  • Orphanet
  • HPO
  • Medgen

    C3495587

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