Inherited retinal diseases (IRDs) represent a collection of phenotypically and genetically
diverse conditions. IRDs phenotype (s) can be isolated to the eye or can involve multiple …

The purpose of this paper is to identify likely pathogenic non-coding variants in inherited
retinal dystrophy (IRD) genes, using genome sequencing (GS). Patients with IRD were …

Ion channels are membrane-spanning integral proteins expressed in multiple organs,
including the eye. Here, ion channels play a role in several physiological processes, like …

In this work, we aimed to provide the genetic diagnosis of a large cohort of patients affected
with inherited retinal dystrophies (IRDs) from Mexico. Our data add valuable information to …

Purpose: To assess the potential of next-generation sequencing (NGS) technologies to
characterize cases diagnosed with autosomal recessive (ar) or sporadic (s) macular …

Leber congenital amaurosis (LCA) and early‐onset retinal degeneration (EORD) are
inherited retinal diseases (IRD) characterized by early‐onset vision impairment. Herein, we …

Background The low prevalence of rare diseases poses a significant challenge in advancing
their understanding. This study aims to delineate the clinical and genetic characteristics of …

Transmembrane protein 184b (Tmem184b) has been implicated in axon degeneration and
neuromuscular junction dysfunction. Notably, Tmem184b exhibits high expression levels in …

The male reproductive system relies heavily on the prostate gland for optimal fertility. One of
its key responsibilities is to produce a fluid that constitutes approximately 30% of the total …

Background. Non-syndromic retinal dystrophies (RDs) are a set of degenerative retinal
diseases that vary clinically and genetically. RDs comprise several overlapping disorders …