Objective: To analyze the phenotypes, genotypes, and the relationship of phenotypes and
genotypes for Chinese patients with Bardet-Biedl syndrome (BBS). Methods: The Chinese …

The first steps of vision take place in the ciliary outer segment compartment of photoreceptor
cells. The protein composition of outer segments is uniquely suited to perform this function …

Bardet‐Biedl syndrome (BBS) is a genetic disorder characterized by early‐onset obesity,
polydactyly, genital and kidney anomalies, developmental delay and vision loss due to rod …

Mutations in the PCDH15 gene, encoding protocadherin-15, are among the leading causes
of Usher syndrome type 1 (USH1F), and account for up to 12% USH1 cases worldwide. A …

For 15 years, gene therapy has been viewed as a beacon of hope for inherited retinal
diseases. Many preclinical investigations have centered around vectors with maximal gene …

PURPOSE: The purpose of this study was to develop a visually guided swim assay (VGSA)
for measuring vision in mouse retinal disease models comparable to the multi-luminance …

SM Hölter et al. to expand preclinical knowledge on a variety of diseases and disorders,
including cardiac dysfunction (Guo et al. 2018; Wang et al. 2019; Spielmann et al. 2022) …

Introduction X-linked retinoschisis (XLRS) is a vitreoretinal dystrophy caused by RS1 gene
mutations which disrupt retinoschisin-1 (RS1) function. Vital for retinal architecture, the …

Purpose X-linked retinoschisis (XLRS), due to loss-of-function mutations in the retinoschisin
(RS1) gene, is characterized by a modest to severe decrease in visual acuity. Clinical trials …

Purpose Previous studies have reported Caspase-1 (Casp1) is upregulated in mouse
models of Juvenile X-linked Retinoschisis (XLRS), however no functional role for Casp1 in …