Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study
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DOI: 10.1002/humu.24365
Abstract: We assessed genotype–phenotype correlations among the visual, auditory, and olfactory phenotypes of 127 participants with Usher syndrome (USH2) (n =80) or nonsyndromic autosomal recessive retinitis pigmentosa (ARRP) (n = 47) due to USH2A variants, using clinical data and… read more here.
Keywords: ush2a related; phenotype correlations; genotype; genotype phenotype ... See more keywords
VALIDATION OF A DEEP LEARNING-BASED ALGORITHM FOR SEGMENTATION OF THE ELLIPSOID ZONE ON OPTICAL COHERENCE TOMOGRAPHY IMAGES OF AN USH2A-RELATED RETINAL DEGENERATION CLINICAL TRIAL
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DOI: 10.1097/iae.0000000000003448
Abstract: We validate the clinical applicability and generalizability of deep OCT atrophy detection, a deep learning-based algorithm originally developed for macular telangiectasia, to segment the ellipsoid zone on optical coherence tomography images of eyes with USH2A-related… read more here.
Keywords: ush2a related; ellipsoid zone; degeneration; based algorithm ... See more keywords
Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome
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DOI: 10.3389/fgene.2022.900548
Abstract: Purposes: We aimed to characterize the USH2A genotypic spectrum in a Chinese cohort and provide a detailed genetic profile for Chinese patients with USH2A-IRD. Methods: We designed a retrospective study wherein a total of 1,334… read more here.
Keywords: ush2a related; spectrum ush2a; genetic characteristics; spectrum ... See more keywords