Background Rubella, though a mild, vaccine-preventable disease, can manifest with severe
teratogenic effects in the fetus labeled as congenital rubella syndrome (CRS) due to primary …

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 …

Purpose To assess the utility of integrating genomic data from next-generation sequencing
and phenotypic data to enhance the diagnosis of bilateral congenital cataract (CC). Design …

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

Background Protein crystallins co me in three types (α, β and γ) and are found
predominantly in the eye, and particularly in the lens, where they are packed into a compact …

The lens is a multicellular, but avascular tissue that must stay transparent to allow normal
transmission of light and focusing of it on the retina. Damage to lens cells and/or proteins …

Congenital cataract is a crystallin severe blinding disease and genetic factors in disease
development are important. Crystallin growth is under a combination of genes and their …

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 …

Methods Twenty five families with congenital cataracts involved in this study. The coding
exons and adjacent intronic regions of 12 genes were analyzed by cycle sequencing …

Purpose The aim of this study was to investigate the mutation spectrum and frequency of 34
known genes in 18 Chinese families with congenital cataracts. Methods Genomic DNA and …