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

Ulinska, M.; Kmera-Muszynska, M.; Szulborski, K.; Broniek-Kowalik, K.; Franaszczyk, M.; Oldak, M.; Ploski, R.Å‚

Klinika Oczna 116(3): 187-192

2014

ISSN/ISBN: 0023-2157
PMID: 25799783
Document Number: 678415
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 and p.Arg197Cys mutation of RS1 gene was identified. In conclusion, optical coherence tomography and flash electroretinography enabled a proper diagnosis of X-linked retinoschisis in a patient with symptoms manifesting in the fourth decade of life. Genetic testing revealed male sufferers and female carriers among his family members.

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