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Terapia gênica em distrofias hereditárias de retina
(Conselho Brasileiro de Oftalmologia, 2009-08-01)
The inherited retinal dystrophies comprise a large number of disorders characterized by a slow and progressive retinal degeneration. They are the result of mutations in genes that express in either the photoreceptor cells ...
Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome
(WILEY-BLACKWELLMALDEN, 2012)
Uniform conduction slowing has been considered a characteristic of inherited demyelinating neuropathies. We present an 18-year-old girl, born from first cousins, that presented a late motor and psychological development, ...
Psychophysical analysis of contrast processing segregated into magnocellular and parvocellular systems in asymptomatic carriers of 11778 Leber's hereditary optic neuropathy
(Cambridge Univ Press, 2008-05-01)
We examined achromatic contrast discrimination in asymptomatic carriers of 11778 Leber's hereditary optic neuropathy (LHON 18 controls) and 18 age-match were also tested. To evaluate magnocellular (MC) and Parvocellular ...
Ambliopía nutricional: alteraciones generales y aspectos para el correcto diagnóstico
(Universidad de La Salle. Ediciones Unisalle, 1 de)
Clinical-histopathological correlation in a case of Coats' disease
(Biomed Central Ltd, 2006-01-01)
Background: Coats' disease is a non-hereditary ocular disease, with no systemic manifestation, first described by Coats in 1908. It occurs more commonly in children and has a clear male predominance. Most patients present ...
Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives
(Academia Brasileira de Neurologia - ABNEURO, 2009)
The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, ...
Radios de curvatura corneal encontrados en diferentes condiciones corneales de carácter hereditario, genético o iatrogénico
(Universidad de La Salle. Ediciones Unisalle, 16 d)
INTRAVITREAL INJECTION OF AUTOLOGOUS BONE MARROW-DERIVED MONONUCLEAR CELLS FOR HEREDITARY RETINAL DYSTROPHY A Phase I Trial
(LIPPINCOTT WILLIAMS & WILKINS, 2011)
Purpose: To evaluate the short-term (10 months) safety of a single intravitreal injection of autologous bone marrow-derived mononuclear cells in patients with retinitis pigmentosa or cone-rod dystrophy. Methods: A prospective, ...
Congenital Cataract in a Blackbelly Lamb
(Universidade Federal do Rio Grande do Sul, 2022)