نتایج جستجو برای: congenital cataract
تعداد نتایج: 136658 فیلتر نتایج به سال:
Background. Congenital and developmental cataracts are leading causes of childhood blindness and severe visual impairment. They may be associated with systemic diseases including congenital heart diseases which are among the major causes of morbidity and mortality in childhood. The pattern of systemic comorbidities seen in children diagnosed with cataract in Calabar, Nigeria, was studied. Metho...
PURPOSE To identify the pathogenic gene mutation in a Chinese family with autosomal dominant congenital nuclear cataract. METHODS After obtaining informed consent, detailed ophthalmic examinations were performed and genomic DNAs were obtained from eleven family members in a three-generation Chinese family with five affected. All exons of candidate genes associated with congenital nuclear cata...
PURPOSE Some 30% of cases of congenital cataract are genetic in origin, usually transmitted as an autosomal dominant trait. The molecular defects underlying some of these autosomal dominant cases have been identified and were demonstrated to be mostly mutations in crystallin genes. The autosomal recessive form of the disease is less frequent. To date, only four genes and three loci have been as...
The palm prints of patients with different types of cataract (total, nuclear, zonular, cortical and complicated) were analysed for main line terminations and compared with those of a random population. The cases were also grouped into congenital, juvenile and senile types for broader comparison. The results showed significant variations for all the 4 main line terminations (D, C, B and A) in se...
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