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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Congenital stationary night blindness: report of an autosomal recessive family and linkage analysis.

Congenital stationary night blindness (CSNB) is a group of rare, non-progressive conditions of the retina characterized by abnormal rod function causing impaired night vision. Among them, the Schubert-Bornschein subgroup, itself divided into a complete and an incomplete form, is characterized by a specific electrophysiological pattern. Complete, Schubert-Bornschein CSNB is usually transmitted as a monogenic trait, and most familial cases result from mutations of the NYX gene located on the X chromosome. We report a very rare family with consanguineous, first-cousin parents, where a son and a daughter are affected with this condition, indicating autosomal recessive inheritance. As the family was too small for genome-wide linkage, we considered several candidate loci, including the sidekick SDK1 and SDK2 genes. The latter determine lamina-specific connectivity in the retina, a histological substrate of the ON pathway implicated in complete, Schubert-Bornschein CSNB. Although linkage was excluded in our family, observations like the present one may lead to the identification of a new molecular cause for this condition.[1]


  1. Congenital stationary night blindness: report of an autosomal recessive family and linkage analysis. Abramowicz, M.J., Ribai, P., Cordonnier, M. Am. J. Med. Genet. A (2005) [Pubmed]
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