Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Florence Rigaudière"'
Publikováno v:
Documenta Ophthalmologica. 144:53-65
Transcobalamin (TC) transports cobalamin (vitamin B12) from plasma into cells. Its congenital deficiency is a rare autosomal recessive disorder due to mutations in the TCN2 gene. It causes intracellular cobalamin depletion with early onset in the fir
Autor:
Manuel Schiff, Hélène Ogier de Baulny, Eliane Delouvrier, Jean-François Le Gargasson, Florence Rigaudière, Paolo Milani
Publikováno v:
Documenta Ophthalmologica. 142:371-380
LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency is a rare genetic disorder of mitochondrial long-chain fatty acid oxidation inherited as a recessive trait. Affected patients can present with hypoglycaemia, rhabdomyolysis and cardiomyopa
Autor:
Stéphane Auvin, Elisa Lopez-Hernandez, Samia Pichard-Oumlil, Florence Rigaudière, Hala Nasser, Eliane Delouvrier, Paolo Milani, Catherine Delanoë
Publikováno v:
Documenta ophthalmologica. Advances in ophthalmology. 143(1)
Neuronal ceroid lipofuscinoses (CLN) are neurodegenerative disorders among the most frequent, inherited as an autosomal recessive trait. Affected patients can present with progressive decline in cognitive and motor functions, seizures, a shortened li
Autor:
Florence, Rigaudière, Eliane, Delouvrier, Jean-François, Le Gargasson, Paolo, Milani, Hélène, Ogier de Baulny, Manuel, Schiff
Publikováno v:
Documenta ophthalmologica. Advances in ophthalmology. 142(3)
LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency is a rare genetic disorder of mitochondrial long-chain fatty acid oxidation inherited as a recessive trait. Affected patients can present with hypoglycaemia, rhabdomyolysis and cardiomyopa
Autor:
Bérengère Koehl, Florence Rigaudière, Albert Faye, Michael Levy, Mathie Lorrot, Agathe de Lauzanne, Isabelle Melki
Publikováno v:
Pediatric Infectious Disease Journal. 34:346-350
Background The effects of ethambutol (EMB) on vision are particularly difficult to detect in children less than 5 years of age because of a lack of complaints and objective clinical signs. The aim of this study was to assess the frequency of visual a
Autor:
Florence Rigaudière, J F Le Gargasson
Publikováno v:
EMC - Ophtalmologie. 4:1-23
Les examens electrophysiologiques visuels explorent un aspect du fonctionnement du systeme visuel initie par les reponses des photorecepteurs a la lumiere. Ces reponses declenchent des signaux simultanement vers l’epithelium pigmentaire et les voie
Publikováno v:
Journal Français d'Ophtalmologie. 29:87-102
Le depistage de la qualite de la vision des enfants en âge d′etre scolarises (a partir de 5-6 ans) doit comprendre un examen de la vision des couleurs, les deficiences liees au chromosome X etant les plus frequentes (8 % des garconnets et 0,4 % de
Autor:
Julie Racine, Sandrine Joly, Florence Rigaudière, Marianne Rufiange, C. Chalier, Jean-François Legargasson, Pierre Lachapelle, Serge G. Rosolen
Publikováno v:
Veterinary Ophthalmology. 7:189-192
The i-wave, a post b-wave component of the human photopic electroretinogram (ERG), is claimed to originate at the level of the retinal ganglion cells (RGC) or more distally. We investigated whether this wave is a feature common to all species. Photop
Autor:
P. Haymann, Sabine Defoort, R. Verdet, Florence Rigaudière, M.H. Rigolet, J. C. Hache, J.-F. Le Gargasson, X. Zanlonghi, J. Leid, I. Ingster-Moati
Publikováno v:
Journal Français d'Ophtalmologie. 27:191-199
The early detection of macular toxicity linked to long-term antimalarial treatment requires regular ophthalmological screening based on patients'classification based on their results compared to successive controls. Patients are classified as "low ri
Autor:
Florence Rigaudière, Serge G. Rosolen
Publikováno v:
Bulletin de l'Académie Vétérinaire de France. 156:15-24
Light is made of electromagnetic radiation “caught” by a sensor, namely the eye. The eye works simultaneously as an optical instrument, an image receptor and, with the help of the retina, as a light transformer. The retina includes neural tissue