Congenital Cataracts
Mostrando 13-24 de 37 artigos, teses e dissertações.
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13. Managing Congenital Cataracts
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14. Lens surgery in infancy and childhood.
The medical records of 224 children who had lens surgery performed at the Hospital for Sick Children during the 10-year period 1978-88 were reviewed. There were 12 children with ectopia lentis; these patients achieved a mean postoperative acuity of 0.68 (6/8.8), and no operative or postoperative complications were noted. Two hundred and twelve children had l
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15. Modulation of amblyopia therapy following early surgery for unilateral congenital cataracts.
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16. AN INVESTIGATION INTO THE MODE OF HEREDITY OF CONGENITAL AND JUVENILE CATARACTS*
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17. Hypertrophic cardiomyopathy associated with a mitochondrial myopathy of voluntary muscles and congenital cataract.
Structurally abnormal mitochondria were found in skeletal muscle cells from a woman with hypertrophic cardiomyopathy and myopathy of voluntary muscles associated with congenital cataracts. Moderate exercise resulted in lactic acidosis. Oxidation of pyruvate and other substrates and the production of adenosine triphosphate were normal in vitro. A younger brot
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18. Marshall syndrome: a condition resembling congenital syphilis.
Marshall syndrome (ectodermal dysplasia) was diagnosed in a 14-year-old boy and is thought to be the first case reported from West Africa. Because of the saddle-nose deformity and bilateral cataracts all patients suspected of having congenital syphilis should be investigated for ocular or auditory defects, which would confirm the diagnosis of ectodermal dysp
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19. Congenital rubella syndrome: ophthalmic manifestations and associated systemic disorders.
Congenital rubella syndrome has a wide variety of severe ophthalmic and systemic complications. A worldwide rubella epidemic from 1963 to 1965 affected thousands of infants. This is a 20 year follow up study of patients with congenital rubella syndrome analysing the prevalence of ophthalmic disorders, associated systemic problems, and correlations among thes
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20. A Missense Mutation in the LIM2 Gene Is Associated with Autosomal Recessive Presenile Cataract in an Inbred Iraqi Jewish Family
In an inbred Iraqi Jewish family, we have studied three siblings with presenile cataract first noticed between the ages of 20 and 51 years and segregating in an autosomal recessive mode. Using microsatellite repeat markers in close proximity to 25 genes and loci previously associated with congenital cataracts in humans and mice, we identified five markers on
The American Society of Human Genetics.
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21. Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association.
We report a sibship of two brothers and one sister with the osteoporosis-pseudoglioma syndrome and congenital heart disease. They presented in infancy with visual impairment and psychomotor retardation. Major features included bilateral cataracts, generalised osteopenia, severe platyspondyly, borderline mental retardation, muscular hypotonia, joint laxity, a
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22. Identification of a major locus for age-related cortical cataract on chromosome 6p12-q12 in the Beaver Dam Eye Study
Age-related cataracts are one of the leading causes of visual impairment and blindness among the elderly worldwide. Among age-related cataracts, cortical opacities rank as the second most common type; however, little is known about their molecular pathogenesis or genetics. To identify susceptibility loci for cortical cataracts, we genotyped a subset of famil
National Academy of Sciences.
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23. Two special indications for intraocular lens implantation.
Two cases with special indications for intraocular lens implants are presented. The first case was of a 60-year-old monocular patient with congenital absence of the external nose and multiple limb deformities. The second case was of a young Bedouin girl with bilateral developmental cataracts who had poor living conditions and social objections to wearing spe
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24. Cataract aspiration-irrigation. Modified needle-tubing-handle combination for push-pull machine.
A modification of the needle-tubing combination for the push-pull machine used for aspiration-irrigation of congenital and traumatic cataracts, is described. The new needle-tubing-handle combination is advantageous in that the incorporated handle makes the insertion and maneouvring in the anterior chamber easier and also the whole combination can easily be a