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 clinical data was collected from 18 families with congenital cataracts. Variations in 34 cataract-associated genes were screened by whole exome sequencing and then validated by Sanger sequencing. RESULTS Eleven candi...

BACKGROUND To determine the etiology and morphological features of cataracts in a myopia-endemic area of Taiwan. METHODS This retrospective case-controlled study comprised 332 patients (440 eyes) who underwent cataract-extraction surgery, 163 patients (220 eyes) constituting the presenile cataract study group, and 169 patients (220 eyes) constituting the senile cataract control group. Each gr...

INTRODUCTION Atopic dermatitis is a chronic, pruritic, eczematous skin disease mediated through an immediate (type I) hypersensitivity reaction. Posterior sub-capsular cataracts are a recognised complication of atopic dermatitis in adults; however they are rare in children. The management of atopic dermatitis is based on the exclusion of allergens, the use of emollients, and on topical corticos...

BACKGROUND Individuals with Down syndrome have an increased risk for congenital cataracts, but descriptions of surgical, medical and developmental outcomes are sparse. MATERIALS AND METHODS Retrospective review of medical charts of patients with Down syndrome with visits to Cincinnati Children's Hospital from 1988 to 2013 was performed. A case series of five patients with Down syndrome and ca...

Major intrinsic protein of lens fiber (MIP) is one of the proteins essential for maintaining lens transparency while also contributing to dominant cataracts in humans. The Nodai cataract (Nat) mice harbor a spontaneous mutation in Mip and develop early-onset nuclear cataracts. The Nat mutation is a c.631G>A mutation (MipNat), resulting in a glycine-to-arginine substitution (p.Gly211Arg) in the ...

The formation of sugar-cataracts has been hypothesized to involve the nonenzymatic glycosylation, sulfhydryl oxidation, and aggregation of lens proteins. Cataractous lenses of diabetic and galactosemic rats were analyzed for glycosylated lysine residues in crystallins. A five- and a ten-fold increase in glycosylated lysine residues was measured in galactose and diabetic cataracts, respectively....

PURPOSE To explore the disease locus and causative mutation for autosomal dominant congenital cataracts (ADCC) in a Kuwaiti family. There were seven affected and three unaffected subjects in the family. METHODS Whole-genome linkage analysis was performed using Gene Chip Human Mapping 250 K Arrays to identify regions of linkage. Potential genes within this region were cloned and sequenced to i...

The relation of antioxidant nutrients to the incidence of nuclear cataracts was investigated in a cohort of adults aged 43-84 years in the Beaver Dam Eye Study (Beaver Dam, Wisconsin). Nuclear opacity was assessed on a five-point ordinal scale using lens photographs taken at baseline (1988-1990) and at follow-up (1993-1995). Of the 1,354 persons eligible, 246 developed a nuclear cataract (level...

PURPOSE Anterior Polar Cataract (APC) develops by a mechanism different from that of other age-related cataracts, and outside of Korea, it is an extremely rare condition. We investigated the prevalence and epidemiological characteristics of APC in Koreans. METHODS The evaluation on the prevalence of APC in comparison to the other age-related cataracts was performed on the 2,108 cataract patie...

WE HAVE TAKEN ADVANTAGE OF A NEWLY ASSIMILATED PRINCIPLE IN NUTRITION: no nutrient by itself should be expected to prevent or cure any disease; nutrients as such always work cooperatively in metabolism as a team.By feeding galactose-containing diets to young rats, cataracts are regularly produced. When, however, we furnished galactose-fed animals with what may be considered a well balanced, ful...