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

N. Torben Bech-Hansen, Margaret J. Naylor, Tracy A. Maybaum, Rebecca L. Sparkes, Ben Koop, David G. Birch, Arthur A.B. Bergen, Clemens F.M. Prinsen, Robert C. Polomeno, Andreas Gal, Arlene V. Drack, Maria A. Musarella, Samuel G. Jacobson, Rockefeller S.L. Young, Richard G. Weleber

Research output: Contribution to journalArticlepeer-review

281 Scopus citations


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 the retina, cells that respond to light increment and light decrement are separated into ON- and OFF-pathways. Hereditary diseases are known to disturb these retinal pathways, causing either progressive degeneration or stationary deficits2. Congenital stationary night blindness (CSNB) is a group of stable retinal disorders that are characterized by abnormal night vision. Genetic subtypes of CSNB have been defined and different disease actions have been postulated3-5. The molecular bases have been elucidated in several subtypes, providing a better understanding of the disease mechanisms and developmental retinal neurobiology2. Here we have studied 22 families with 'complete' X-linked CSNB (CSNB1; MIM 310500; ref. 4) in which affected males have night blindness, some photopic vision loss and a defect of the ON-pathway. We have found 14 different mutations, including 1 founder mutation in 7 families from the United States, in a novel candidate gene, NYX. NYX, which encodes a glycosylphosphatidyl (GPI)-anchored protein called nyctalopin, is a new and unique member of the small leucine-rich proteoglycan (SLRP) family6. The role of other SLRP proteins suggests that mutant nyctalopin disrupts developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB.

Original languageEnglish (US)
Pages (from-to)319-323
Number of pages5
JournalNature genetics
Issue number3
StatePublished - 2000

ASJC Scopus subject areas

  • Genetics


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