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Am J Ophthalmol. 2002 Oct;134(4):622-4.

Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis.

Author information

1
Department of Ophthalmology and Visual Science, Osaka University Graduate School of Medicine, Japan.

Abstract

PURPOSE:

To report two novel point mutations of the XLRS1 gene in two Japanese patients with X-linked juvenile retinoschisis.

DESIGN:

Observational case reports.

METHODS:

The exons, including the flanking introns of XLRS1, were amplified by polymerase chain reaction and analyzed by direct sequencing.

RESULTS:

One novel splice donor site mutation (IVS2 + 1g to a) and one missense mutation of exon 6 (Ala211Thr) were found.

CONCLUSIONS:

Genetic findings identifying mutations in the XLRS1 gene will lead to earlier and more accurate diagnosis of X-linked juvenile retinoschisis.

PMID:
12383832
[Indexed for MEDLINE]

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