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      Novel 473-bp deletion in XLRS1 gene in a Japanese family with X-linked juvenile retinoschisis.

      Graefe's Archive for Clinical and Experimental Ophthalmology

      Adult, Base Sequence, DNA Mutational Analysis, Electroretinography, Exons, genetics, Eye Proteins, Frameshift Mutation, Humans, Japan, Male, Molecular Sequence Data, Polymerase Chain Reaction, Retina, physiopathology, Retinoschisis, Sequence Deletion, Siblings

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          Abstract

          To present the clinical features of two brothers with molecularly confirmed X-linked juvenile retinoschisis (xlRS) but with non-characteristic electrophysiological findings. Comprehensive ophthalmological examinations were performed. The electroretinograms (ERGs) were recorded under ISCEV standards, and ERGs elicited by long-duration stimuli were also evaluated. Standard genetic analysis of peripheral blood leukocytes was performed. Molecular testing revealed a novel 473-bp deletion including exon 4 in the XLRS1 gene in both siblings. This resulted in a frameshift mutation and a premature termination at codon 78. The scotopic and photopic ERGs were reduced, but the "negative-type" ERG, characteristic of xlRS, was not observed. Flicker ERGs were also highly reduced. Long-duration stimuli elicited ERGs with a complete loss of the b-wave and a preservation of the off-response, i.e., negative-type ERG. The phenotype/genotype relationship was not determined. The consistency of the ERGs elicited by long-duration stimuli in xlRS patients suggests that this type of stimuli provides responses that are a better indicator for the progression or stage of the disease.

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          Journal
          14986011
          10.1007/s00417-004-0878-y

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