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

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MeSH Review:

Eye Diseases, Hereditary

Gal, A. et al., Simon, A. et al., Carlson, S. et al.

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High impact information on Eye Diseases, Hereditary

Due to the unique role of 11-cis retinol dehydrogenase in the generation of visual pigments, it is a candidate gene for involvement in hereditary eye disease [1].
Thus, in addition to retinitis pigmentosa and Norrie disease, CSNBX represents the third well-known hereditary eye disease the locus of which is mapped on the proximal Xp and closely linked to DXS7 [2].
The clinical and ERG findings of this study suggest that the 5 subjects of our family do not represent AIED but another X-linked hereditary eye disease [3].

References

Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene. Simon, A., Lagercrantz, J., Bajalica-Lagercrantz, S., Eriksson, U. Genomics (1996) [Pubmed]
Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp. Gal, A., Schinzel, A., Orth, U., Fraser, N.A., Mollica, F., Craig, I.W., Kruse, T., Mächler, M., Neugebauer, M., Bleeker-Wagemakers, L.M. Hum. Genet. (1989) [Pubmed]
Clinical and electroretinographic comparison between Aland Island eye disease and a newly found related disease with X-chromosomal inheritance. Carlson, S., Vesti, E., Raitta, C., Donner, M., Eriksson, A.W., Forsius, H. Acta ophthalmologica. (1991) [Pubmed]

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