944 resultados para Deaf-blindness


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There are various methods of providing pain relief for painful blind eyes. We wish to recommend this effective method of providing temporary analgesia in patients suffering from a severe painful blind eye before undergoing enucleation.

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Newsletter produced by Deaf Services Commission of Iowa

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Newsletter produced by Deaf Services Commission of Iowa

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Newsletter produced by Deaf Services Commission of Iowa

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Newsletter produced by Deaf Services Commission of Iowa

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Newsletter produced by Deaf Services Commission of Iowa

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Newsletter produced by Deaf Services Commission of Iowa

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Newsletter produced by Deaf Services Commission of Iowa

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Newsletter produced by Deaf Services Commission of Iowa

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Newsletter produced by Deaf Services Commission of Iowa

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PURPOSE: To characterize the clinical, psychophysical, and electrophysiological phenotypes in a five-generation Swiss family with dominantly inherited retinitis pigmentosa caused by a T494M mutation in the Precursor mRNA-Processing factor 3 (PRPF3) gene, and to relate the phenotype to the underlying genetic mutation. METHODS: Eleven affected patients were ascertained for phenotypic and genotypic characterization. Ophthalmologic evaluations included color vision testing, Goldmann perimetry, and digital fundus photography. Some patients had autofluorescence imaging, Optical Coherence Tomography, and ISCEV-standard full-field electroretinography. All affected patients had genetic testing. RESULTS: The age of onset of night blindness and the severity of the progression of the disease varied between members of the family. Some patients reported early onset of night blindness at age three, with subsequent severe deterioration of visual acuity, which was 0.4 in the best eye after their fifties. The second group of patients had a later onset of night blindness, in the mid-twenties, with a milder disease progression and a visual acuity of 0.8 at age 70. Fundus autofluorescence imaging and electrophysiological and visual field abnormalities also showed some degree of varying phenotypes. The autofluorescence imaging showed a large high-density ring bilaterally. Myopia (range: -0.75 to -8) was found in 10/11 affected subjects. Fundus findings showed areas of atrophy along the arcades. A T494M change was found in exon 11 of the PRPF3 gene. The change segregates with the disease in the family. CONCLUSIONS: A mutation in the PRPF3 gene is rare compared to other genes causing autosomal dominant retinitis pigmentosa (ADRP). Although a T494M change has been reported, the family in our study is the first with variable expressivity. Mutations in the PRPF3 gene can cause a variable ADRP phenotype, unlike in the previously described Danish, English, and Japanese families. Our report, based on one of the largest affected pedigree, provides a better understanding as to the phenotype/genotype description of ADRP caused by a PRPF3 mutation.

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The Iowa Department for the Blind is the state agency that serves Iowans with vision loss. Services are free, confidential and available statewide. "There are no limitations to what you can do with training and a positive attitude." (All quotes in this newsletter are from former training participants). At the Iowa Department for the Blind, we believe in a positive approach to blindness. Vision loss alone should not prevent anyone from being independent. For this reason, we offer a wide variety of opportunities to obtain the skills necessary for independence.

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The Iowa Department for the Blind is the state agency that serves Iowans with vision loss. Services are free, confidential and available statewide. "There are no limitations to what you can do with training and a positive attitude." (All quotes in this newsletter are from former training participants). At the Iowa Department for the Blind, we believe in a positive approach to blindness. Vision loss alone should not prevent anyone from being independent. For this reason, we offer a wide variety of opportunities to obtain the skills necessary for independence.

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The Iowa Department for the Blind is the state agency that serves Iowans with vision loss. Services are free, confidential and available statewide. "There are no limitations to what you can do with training and a positive attitude." (All quotes in this newsletter are from former training participants). At the Iowa Department for the Blind, we believe in a positive approach to blindness. Vision loss alone should not prevent anyone from being independent. For this reason, we offer a wide variety of opportunities to obtain the skills necessary for independence.

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BACKGROUND: Cytomegalovirus (CMV) retinitis is a major cause of visual impairment and blindness among patients with uncontrolled HIV infections. Whereas polymorphisms in interferon-lambda 3 (IFNL3, previously named IL28B) strongly influence the clinical course of hepatitis C, few studies examined the role of such polymorphisms in infections due to viruses other than hepatitis C virus. OBJECTIVES: To analyze the association of newly identified IFNL3/4 variant rs368234815 with susceptibility to CMV-associated retinitis in a cohort of HIV-infected patients. DESIGN AND METHODS: This retrospective longitudinal study included 4884 white patients from the Swiss HIV Cohort Study, among whom 1134 were at risk to develop CMV retinitis (CD4 nadir <100 /μl and positive CMV serology). The association of CMV-associated retinitis with rs368234815 was assessed by cumulative incidence curves and multivariate Cox regression models, using the estimated date of HIV infection as a starting point, with censoring at death and/or lost follow-up. RESULTS: A total of 40 individuals among 1134 patients at risk developed CMV retinitis. The minor allele of rs368234815 was associated with a higher risk of CMV retinitis (log-rank test P = 0.007, recessive mode of inheritance). The association was still significant in a multivariate Cox regression model (hazard ratio 2.31, 95% confidence interval 1.09-4.92, P = 0.03), after adjustment for CD4 nadir and slope, HAART and HIV-risk groups. CONCLUSION: We reported for the first time an association between an IFNL3/4 polymorphism and susceptibility to AIDS-related CMV retinitis. IFNL3/4 may influence immunity against viruses other than HCV.