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Graefes Arch Clin Exp Ophthalmol. 2004 Jul;242(7):561-5. Epub 2004 Feb 20.

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

Author information

1
Department of Ophthalmology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku 160-8582, Tokyo, Japan. shinodak@uni.de

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.

PMID:
14986011
DOI:
10.1007/s00417-004-0878-y
[Indexed for MEDLINE]

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