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    Article

    Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

    X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and strabismus1,2,3. Two distinct...

    N. Torben Bech-Hansen, Margaret J. Naylor, Tracy A. Maybaum… in Nature Genetics (1998)

  2. No Access

    Article

    Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

    During development, visual photoreceptors, bipolar cells and other neurons establish connections within the retina enabling the eye to process visual images over approximately 7 log units of illumination1. Within...

    N.Torben Bech-Hansen, Margaret J. Naylor, Tracy A. Maybaum… in Nature Genetics (2000)