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A New CRB1 Rat Mutation Links Müller Glial Cells to Retinal Telangiectasia
(Society for Neuroscience, 2015-04)
Wehave identified and characterized a spontaneousBrownNorwayfrom Janvier rat strain (BN-J) presenting a progressive retinal degeneration
associated with early retinal telangiectasia, neuronal alterations, and loss of ...
Manejo de la retinitis pigmentosa: presentación de un caso clínico
(Universidad de La Salle. Ediciones Unisalle, 20 d)
DISCORDANCE FOR RETINITIS PIGMENTOSA IN TWO MONOZYGOTIC TWIN PAIRS
(LIPPINCOTT WILLIAMS & WILKINS, 2011)
Background: Retinitis pigmentosa (RP) is a group of genetically heterogeneous diseases with progressive degeneration of the retina. The condition can be inherited as an autosomal dominant, autosomal recessive, and X-linked ...
Association study of high-frequency variants of MTHFR gene with retinal vein occlusion in a Spanish population
(Taylor and Francis Ltd, 2019)
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)
Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
(2009-09)
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet
and ...
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 ...
Visual acuity and retinal function in patients with Bardet-Biedl syndrome
(Faculdade de Medicina / USP, 2012-01-01)
OBJECTIVE: Bardet-Biedl syndrome is a genetic, multisystem disorder that causes severe visual impairment. This condition is characterized by retinal dystrophy, obesity, digit anomalies, renal disease, and hypogonadism. The ...
Retinal and choroidal manifestations of gastrointestinal diseases
This chapter describes some of the gastrointestinal diseases that have ocular manifestations, especially in the retina and choroid. They include inflammatory bowel disease (IBD), Whipple’s disease, pancreatitis, avitaminosis ...