Article
Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease.
Ophthalmic genetics - 1 Sept 2005
Eksandh Louise, Andréasson Sten, Abrahamson Magnus
Abstract excerpt
PURPOSE: To report four cases of genetically verified juvenile X-linked retinoschisis (XLRS) with normal scotopic b-waves in full-field ERG, including one patient with a novel mutation (W50X) in the RS1 gene. METHODS: Four XLRS patients from different families were examined with regard to visual acuity, kinetic perimetry, fundus photography, full-field ERG, and OCT. Two of these patients were also examined with...
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