A novel mutation in the RS1 gene in a Chinese family with X-linked congenital retinoschisis.

ABSTRACT: The purpose of the present study was to assess the clinical characteristics of X-linked retinoschisis (XLRS) in a Chinese family over a 7-year period with the aim of identifying possible genetic mutations associated with this disease. A total of 2 male siblings from a family with XLRS were followed up for 7 years and the best-corrected visual acuity and data obtained using slit-lamp microscopy, indirect ophthalmoscopy, fundus photography, spectral domain-optical coherence tomography (OCT), fundus autofluorescence and fundus fluorescence (FFA) and multifocal electroretinograms (ERG) were examined. The coding regions of the retinoschisin 1 (RS1) gene were amplified by PCR and sequenced directly. The proband exhibited blurred vision at 12 years old and was indicated to exhibit a typical pheno

SUBMITTER: Zhang N 

PROVIDER: S-EPMC7739845 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature