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Article

X-linked retinoschisis--clinical manifestation, genetic and electrophysiological analysis of three generations with p.Arg197Cys mutation of RS1 gene.

Klinika oczna - 1 Jan 2014

Ulinska Magdalena, Kmera-Muszynska Maria, Szulborski Kamil, Broniek-Kowalik Karina, Franaszczyk Maria, Oldak Monika, Ploski Rafał

Abstract excerpt

The aim of the study is to present an atypical case of late-onset X-linked retinoschisis. We present a case of a 37 year-old male patient with a few months' history of visual impairment. A clinical exam with optical coherence tomography and flash electroretinography (flash-ERG) was performed and the patient was diagnosed with X-linked retinoschisis. Genetic testing of the patient's family confirmed the disease...

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PMID: 25799783

Genes

ERG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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