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Graefe's Archive for Clinical and Experimental Ophthalmology

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01-07-2004 | Clinical Investigation

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

Authors: Kei Shinoda, Hisao Ohde, Susumu Ishida, Makoto Inoue, Yoshihisa Oguchi, Yukihiko Mashima

Published in: Graefe's Archive for Clinical and Experimental Ophthalmology | Issue 7/2004

Abstract

Purpose

To present the clinical features of two brothers with molecularly confirmed X-linked juvenile retinoschisis (xlRS) but with non-characteristic electrophysiological findings.

Methods

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.

Results

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.

Conclusion

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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Title: Novel 473-bp deletion in XLRS1 gene in a Japanese family with X-linked juvenile retinoschisis
Authors: Kei Shinoda
Hisao Ohde
Susumu Ishida
Makoto Inoue
Yoshihisa Oguchi
Yukihiko Mashima
Publication date: 01-07-2004
Publisher: Springer-Verlag
Published in: Graefe's Archive for Clinical and Experimental Ophthalmology / Issue 7/2004
Print ISSN: 0721-832X
Electronic ISSN: 1435-702X
DOI: https://doi.org/10.1007/s00417-004-0878-y

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Purpose

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusion

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