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Article

Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis.

Molecular vision - 1 Jan 2012

Skorczyk Anna, Krawczyński Maciej R

Abstract excerpt

PURPOSE: To determine the clinical features and to identify mutations in the retinoschisis gene (RS1) in ten patients with X-linked retinoschisis (XLRS). METHODS: Ten male patients from nine Polish families were included in this study. Ophthalmologic examinations, including optical coherence tomography (OCT) and full-field electroretinography (ERG), were performed in all affected boys. The entire coding region...

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PMID: 23288992
PMCID: PMC3534142

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ERG

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