title: X-linked retinoschisis--clinical manifestation, genetic and electrophysiological analysis of three generations with p.Arg197Cys mutation of RS1 gene.
abstract: 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.
authors: Magdalena
authors: M
authors: Ulinska
authors: Maria
authors: M
authors: Kmera-Muszynska
authors: Kamil
authors: K
authors: Szulborski
authors: Karina
authors: K
authors: Broniek-Kowalik
authors: Maria
authors: M
authors: Franaszczyk
authors: Monika
authors: M
authors: Oldak
authors: Rafał
authors: R
authors: Ploski
mesh_terms: D000328:Adult; D004596:Electroretinography / Q000379:methods; D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D041441:Retinoschisis / Q000175:diagnosis* / Q000235:genetics*; D041623:Tomography, Optical Coherence / Q000379:methods
chemical_list: D005136:Eye Proteins; C108726:RS1 protein, human