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Congenital stationary night blindness 1B

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Description

Autosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they may not be able to identify road signs at night or see stars in the night sky. They also often have other vision problems, including loss of sharpness (reduced acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus).\n\nThe vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time.

MedlinePlus Genetics

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

20

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Genes

External Links

  • OMIM

    257270

  • Orphanet
  • HPO
  • Medgen

    C1850362

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