Congenital cataracts, the most common cause of visual impairment and blindness in
children worldwide, have diverse etiologies. According to statistics analysis, about one …

Cataracts are the principal cause of treatable blindness worldwide. Inherited congenital
cataract (CC) shows all types of inheritance patterns in a syndromic and nonsyndromic form …

Past 25y have witnessed an exponential increase in knowledge and understanding of
ocular diseases and their respective genetic underpinnings. As a result, scientists have …

Abstract Stargardt disease (STGD1, OMIM 248200) is a common hereditary juvenile or early
adult onset macular degeneration. It ultimately leads to progressive central vision loss. Here …

Neonatal cataracts remain the most common cause of visual loss in children worldwide and
have diverse, often unknown, etiologies. This review summarizes current knowledge about …

Retinitis pigmentosa (RP) is a group of hereditary, degenerative retinal disorders
characterized by progressive retinal dysfunction, outer retina cell loss, and retinal tissue …

Background Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease, and
genetic contributors exert a significant role in the complicated pathogenesis. Identification of …

Abstract The Emory cataract (Em) mouse mutant has long been proposed as an animal
model for age-related or senile cataract in humans—a leading cause of visual impairment …

Abstract Background Whole-Exome Sequencing (WES) is a valuable tool for the molecular
diagnosis of patients with a suspected genetic condition. In complex and heterogeneous …

Background Periaxins (encoded by PRX) play an important role in the stabilization of
peripheral nerve myelin. Mutations in PRX can lead to Charcot-Marie-Tooth disease type 4F …