Clinical presentations of X-linked retinoschisis in Taiwanese patients confirmed with genetic sequencing.

ABSTRACT:

Purpose

To investigate the clinical characteristics of X-linked retinoschisis (XLRS) and identify genetic mutations in Taiwanese patients with XLRS.

Methods

This study included 23 affected males from 16 families with XLRS. Fundus photography, spectral domain optical coherent tomography (SD-OCT), fundus autofluorescence (FAF), and full-field electroretinograms (ERGs) were performed. The coding regions of the RS1 gene that encodes retinoschisin were sequenced.

Results

The median age at diagnosis was 18 years (range 4-58 years). The best-corrected visual acuity ranged from no light perception to 20/25. The typical spoke-wheel pattern in the macula was present in 61% of the patients (14/23) while peripheral retinoschisis was present in 43% of the patients (10/23). Four ey

SUBMITTER: Wang NK 

PROVIDER: S-EPMC4415592 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature