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

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 Genes doi: 10.3390/genes14030652 Authors: Katja Čadonič Jana Sajovic Marko Hawlina Ana 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 years of age). At the first exam, at a median age of 42 years, the median BCVA was 0.5 (0.2–1.0), and the median visual field diameter was 23° (5°–114°). Imaging showed a hyperautofluorescent ring delineating preserved foveal photoreceptors in 78% (7/9) of patients, while 22% (2/9) had a hyperautofluorescent patch or atrophy, reflecting advanced disease. Survival analysis predicted that 50% of patients reach legal blindness based on a visual field diameter < 20° at the age of 52 (95% CI, 45–59) and legal blindne...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research