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Mostrando ítems 11-20 de 44
Genotipagem de pacientes com retinose pigmentar utilizando sequenciamento de nova geração
(Universidade Federal de São Paulo (UNIFESP), 2016-07-26)
Retinitis pigmentosa is a group of diseases characterized clinically by loss of peripheral visual field, and night blindness can be caused by mutations in several genes. Purpose: Determine, for each of the 16 patients, the ...
Terapia génica en el manejo de las distrofias retinianas
(Universidad de La Salle. Facultad de Ciencias de la Salud. Optometría, 2017)
Small-field perimetry applied to different types of retinitis pigmentosa: preliminary results
(Open Access Text, 2017-02)
PURPOSE: To measure the sensitivity of small retinal areas by reducing the influence of the adaptation state of the rest of the retina. To assess the functional behaviour of the retina of several patients affected by ...
Fundus flavimaculatus e neovascularização subretiniana: relato de caso
(Conselho Brasileiro de Oftalmologia, 2005-04-01)
Fundus flavimaculatus is a progressive, bilateral, hereditary retinal dystrophy characterized by ill-defined, yellowish, pisciform flecks at the level of the retinal pigment epithelium. Since the disease process is at level ...
Psychophysical measurements of luminance and chromatic spatial and temporal contrast sensitivity in Duchenne muscular dystrophy
(Pontificia Universidade Católica do Rio de JaneiroUniversidade de BrasíliaUniversidade de São Paulo, 2011)
In children with Duchenne muscular dystrophy, color vision losses have been related to dystrophin deletions downstream of exon 30, which affect a dystrophin isoform, Dp260, present in the retina. To further evaluate visual ...
Avaliação da autofluorescência do fundo de olho nas distrofias de retina com o aparelho Heidelberg Retina Angiograph2
(Conselho Brasileiro de Oftalmologia, 2007-10-01)
PURPOSE: To define characteristics of the fundus autofluorescence examination, verifying usefulness in the diagnosis and care of hereditary retinal diseases. METHODS: 28 patients, adults, divided equally into four groups ...
p75NTR antagonists attenuate photoreceptor cell loss in murine models of retinitis pigmentosa
(Nature Publishing Group, 2017-07)
ProNGF signaling through p75NTR has been associated with neurodegenerative disorders. Retinitis pigmentosa (RP) comprises a group of inherited retinal dystrophies that causes progressive photoreceptor cell degeneration and ...
Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation
(Assoc Research Vision Ophthalmology Inc, 2017)
PURPOSE. To analyze the presence of complex alleles of the ABCA4 gene in Brazilian patients with Stargardt disease and to assess the correlation with clinical features. METHODS. This was an observational cross-sectional ...
Amaurose congênita de Leber: prevalência, correlações genótipo fenótipo e novos achados em uma coorte brasileira
(Universidade Federal de São Paulo (UNIFESP), 2020-12-18)
Purpose: To study the genetic profile of a Brazilian inherited retinal dystrophy cohort, emphasizing cases of Leber congenital amaurosis. Methods: Review of 2,299 medical records and 1,015 genetic tests of patients with ...