Viktória Szabó

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PURPOSE To determine clinical phenotypes, examine the age dependency of X-linked juvenile retinoschisis (XLRS), and identify mutations in the retinoschisis1 gene (RS1) in 13 Hungarian (Caucasian) families with this disease. METHODS This study included 72 members in 13 families. Complete ophthalmological examinations, including optical coherence tomography(More)
PURPOSE Variation in sensitivity to glucocorticoids observed in healthy population is influenced by genetic polymorphisms of the glucocorticoid receptor gene (NR3C1). N363S, ER22/23EK, and Bcl I have been previously described as glucocorticoid-sensitivity modulating polymorphisms. We investigated whether these variants may contribute to steroid-induced(More)
Preterm birth may be associated with hypoxic-ischaemic encephalopathy (HIE) showing a well recognised number of patterns, including neuronal karyorrhexis/eosinophilia mostly at the diencephalon and brain stem and leukomalacia at the periventricular white matter. To investigate whether programmed cell death or apoptosis plays a role in HIE, we examined human(More)
PURPOSE To present the ocular findings of a Hungarian family with X-linked juvenile retinoschisis (XLRS) and to reveal a novel putative splice mutation leading to serious truncation of retinoschisin (RS1) protein. Our genetic results were compared to a mouse model of XLRS. METHODS Complete ophthalmic examinations were performed on five members (two male(More)
Purpose Rare interchange haplotypes in exon 3 of the OPN1LW and OPN1MW opsin genes cause X-linked myopia, color vision defect, and cone dysfunction. The severity of the disease varies on a broad scale from nonsyndromic high myopia to blue cone monochromatism. Here, we describe a new genotype-phenotype correlation attributed to rare exon 3 interchange(More)
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