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Genes, Vol. 14, Pages 652: Natural Disease Course in Usher Syndrome Patients Harboring USH2A Variant p.Cys870* In Exon 13, Amenable to Exon Skipping Therapy
a Fakin The aim of the study was to determine the rate of retinal degeneration in patients with c.2610C>A (p.Cys870*) in USH2A exon 13, amenable to exon skipping therapy. There were nine patients from seven families, three of whom were male (two were homozygous). Seven patients had follow-up data (median of 11 years). Analysis included best corrected visual acuity (BCVA, decimal Snellen), visual field (Goldmann perimetry target II/4), fundus autofluorescence (FAF), optical coherence tomography (OCT), and microperimetry (MP). The median age at the onset of nyctalopia was 20 years (range, 8–35 ye...
Source: Genes - March 5, 2023 Category: Genetics & Stem Cells Authors: Katja Čadonič Jana Sajovic Marko Hawlina Ana Fakin Tags: Article Source Type: research