نتایج جستجو برای: congenital cataract
تعداد نتایج: 136658 فیلتر نتایج به سال:
PURPOSE To inquire into the morbidity of congenital cataract which affects the visual development of infants in Tianjin, find the proportion of cases caused by genetic factors, and to provide the baseline information for discovering amblyopia in an early stage so as to reduce vision disability. MATERIALS AND METHODS Babies no more than two months old were screened for congenital cataract unde...
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...
Delay in presentation to hospital for surgery for congenital and developmental cataract in Tanzania.
BACKGROUND Childhood cataract is a leading cause of blindness in children in eastern Africa. High quality surgical services have been established at a few tertiary facilities in the region; however, there appears to be delay in presentation to hospital. METHODS Parents or guardians of all children presenting to KCMC Hospital or CCBRT Hospital with congenital (recognised since birth or within ...
PURPOSE To investigate the ocular features of children with congenital cataract in a tertiary referral eye center in East China. METHODS We retrospectively reviewed the clinical data of congenital cataract children who underwent cataract surgery between April 2009 and April 2014 at the Eye and ENT Hospital of Fudan University and identified factors associated with the axial length (AXL) and c...
PURPOSE To identify the genetic defect in a five-generation Chinese family with congenital Y-suture cataracts. METHODS A five-generation Chinese family with inherited Y-suture cataract phenotype was recruited. Detailed family history and clinical data of the family were recorded. Candidate genes sequencing was performed to screen out the disease-causing mutation. RESULTS The congenital cata...
BACKGROUND Congenital cataract is a rare disorder characterized by crystallin denaturation, which becomes a major cause of childhood blindness. Although more than fifty pathogenic genes for congenital cataract have been reported, the genetic causes of many cataract patients remain unknown. In this study, the aim is to identify the genetic cause of a five-generation Chinese autosomal dominant co...
PURPOSE A four-generation Chinese family with 13 members affected with autosomal dominant congenital posterior polar cataract was studied. The purpose of this study was to identify the disease-causing gene in the family and to validate that mutations in CRYAB, the alphaB-crystallin gene, cause the congenital cataract. METHODS Linkage analysis was performed with a panel of microsatellite marke...
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