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

An unusual central retinal dystrophy associated with ichthyosis vulgaris.

A number of ichthyosis syndromes may have retinal abnormalities such as the retinitis pigmentosa-like diffuse rod-cone dystrophy in Refsum's syndrome and the maculopathy in Sjögren-Larsson syndrome. We present two sisters who have an unusual, almost identical, bilaterally symmetric central retinal dystrophy associated with ichthyosis vulgaris in the absence of other systemic disorders. We believe that this dystrophy has not been previously described in patients with any of the known varieties of ichthyosis.[1]


  1. An unusual central retinal dystrophy associated with ichthyosis vulgaris. Saatci, O.A., Ozbek, Z., Köse, S., Durak, I., Kavukçu, S. Ophthalmic Genet. (2000) [Pubmed]
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