An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation.

doi:10.1016/j.visres.2006.06.011

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Article

An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation.

Vision research - 1 Oct 2006

Iannaccone Alessandro, Mura Marco, Dyka Frank M, Ciccarelli Maria Laura, Yashar Beverly M, Ayyagari Radha, Jablonski Monica M, Molday Robert S

Abstract excerpt

A 52-year-old subject harboring an RS1 gene W112C mutation presented with a prominent and asymmetric tapetal-like retinal sheen. Transient ERG responses were smaller and slower in the eye with the more extensive sheen, an association that, to our knowledge, had not been previously reported. An ON-pathway dysfunction explained the abnormalities of the transient but not those of the flicker ERGs. Although in vitro...

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PMID: 16884758
DOI: 10.1016/j.visres.2006.06.011

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