نتایج جستجو برای: congenital cataract
تعداد نتایج: 136658 فیلتر نتایج به سال:
PURPOSE To genetically map the gene causing isolated X linked cataract in a large European pedigree. METHODS Using the patient registers at Birmingham Women's Hospital, UK, we identified and examined 23 members of a four generation family with nuclear cataract. Four of six affected males also had complex congenital heart disease. Pedigree data were collated and leucocyte DNA extracted from ve...
Warburg micro syndrome (WAflBM) or Micro syndrome is a rare, genetically heterogeneous, autosomal recessive syndrome. Patients with WAflBM present with severe mental retardation, brain anomalies (polymicrogyria and corpus callosum hypoplasia), craniofacial features (microcephaly, hairy forehead, large anteverted ear, broad nasal root and micrognathia), ocular defects (congenital cataract, micro...
Congenital cataracts are a significant cause of lifelong visual loss. They may be isolated or associated with microcornea, microphthalmia, anterior segment dysgenesis (ASD) and glaucoma, and there can be syndromic associations. Genetic diagnosis is challenging due to marked genetic heterogeneity. In this study, next-generation sequencing (NGS) of 32 cataract-associated genes was undertaken in 4...
PURPOSE To assess the long-term visual acuity (VA) outcome after congenital cataract surgery at Imam Hossein Medical Center (Tertiary Referral Center) (2004-2014). METHODS In this descriptive study, records of 120 patients with a history of congenital cataract surgery were studied. Those with traumatic, metabolic cataract, aged <5 years at the last visit who were not able to respond VA testin...
PURPOSE This study aimed to map the genetic locus responsible for a novel X-linked congenital cataract phenotype. METHODS A large three-generation family with lamellar and nuclear cataract in five affected males was identified. Linkage analysis was conducted by genotyping X-chromosome specific microsatellite markers at an average spacing of 5 cM. Analysis was conducted using the LINKAGE packa...
Congenital cataract is a clinically and genetically heterogeneous disease. The present study was undertaken to find the genetic cause of congenital cataract families. DNA samples of a large consanguineous Pakistani family were genotyped with a high resolution single nucleotide polymorphism Illumina microarray. Homozygosity mapping identified a homozygous region of 4.4 Mb encompassing the gene G...
PURPOSE To identify the underlying genetic defect in a north Indian family with seven members in three-generations affected with bilateral congenital cataract. METHODS Detailed family history and clinical data were recorded. Linkage analysis using fluorescently labeled microsatellite markers for the already known candidate gene loci was performed in combination with mutation screening by bidi...
PURPOSE To describe a novel polymorphism in the γD-crystallin (CRYGD) gene in a Brazilian family with congenital cataract. METHODS A Brazilian four-generation family was analyzed. The proband had bilateral lamellar cataract and the phenotypes were classified by slit lamp examination. Genomic DNA was extracted from peripheral blood and coding regions and intron/exon boundaries of the αA-crysta...
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