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Hereditary microphthalmia in Texel lambs in Brazil
(2018-03-01)
On a farm in southern Brazil, four lambs in a flock of 300 Texel sheep were born with bilateral blindness. They revealed bilateral occlusion of the eyelids and were unresponsive to external visual stimuli and were disoriented ...
Neuropatía óptica hereditaria de Leber: reporte de caso
(Universidad de La Salle. Ediciones Unisalle, 10 d)
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 ...
PROM1 gene variations in Brazilian patients with macular dystrophy
(Taylor & Francis Inc, 2017)
Background: Although the pathogenicity of the prominin-1 (PROM1) gene has already been described as associated with autosomal dominant Stargardt disease, little is known about sequence variations in this gene. Purpose: The ...
Genetics and prevention of blindnessGenética e prevenção da cegueira
(Conselho Brasileiro de Oftalmologia, 2006)
Extracellular matrix in ocular homeostasis and diseases: The heroes, the villains, and the magic
(2018-08-09)
The eyes are highly diversified photosensitive structures. In all vertebrates, eyes resemble in molecular composition and are predominantly composed of extracellular matrix (ECM). Compared with other structures, the eyes ...
Unusual macular thickness in Alport syndrome: case report
(CONSEL BRASIL OFTALMOLOGIASAO PAULO, 2012)
This case report describes the presence of bilateral macular atrophy in a patient with Alport syndrome and compares this finding with literature. At fundoscopy, there was a discrete circumscribed macular thinning showing ...
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 ...