Pediatric cataract is a leading cause of childhood blindness. Untreated cataracts in children
lead to tremendous social, economical, and emotional burden to the child, family, and …

α-Crystallin, a major component of the eye lens cytoplasm, is a large multimer formed from
two members of the small heat shock protein (sHsp) family. Inherited crystallin mutations are …

Congenital cataracts are a significant cause of lifelong visual loss. They may be isolated or
associated with microcornea, microphthalmia, anterior segment dysgenesis (ASD) and …

Small heat shock proteins form large cytosolic assemblies from an “α-crystallin
domain”(ACD) flanked by sequence extensions. Mutation of a conserved arginine in the …

Pediatric cataracts are observed in 1–15 per 10,000 births with 10–25% of cases attributed
to genetic causes; autosomal dominant inheritance is the most commonly observed pattern …

Non-syndromic pediatric cataracts are defined as opacification of the crystalline lens that
occurs during the first years of life without affecting other organs. Given that this disease is …

Our purpose was to identify mutations responsible for non-syndromic congenital cataracts
through the implementation of next-generation sequencing (NGS) in our center. A sample of …

A cataract is defined as opacification of the normally transparent crystalline lens. Congenital
cataract (CC) is a type of cataract that presents at birth or during early childhood. CC is one …

Congenital cataract is the most frequent inherited ocular disorder and the most leading
cause of lifelong visual loss. The screening of pathogenic mutations can be very challenging …

Hereditary forms of cataract are genetically heterogeneous. Mutations in crystallin genes
account for most Mendelian forms, but identification of other cataract genes has provided …