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7.
Arch. Soc. Esp. Oftalmol ; 90(5): 233-236, mayo 2015. ilus
Article in Spanish | IBECS | ID: ibc-137696

ABSTRACT

CASO CLÍNICO: Se presentan los casos clínicos de 2 familiares directos diagnosticados recientemente de neuropatía óptica hereditaria de Leber (NOHL) mutación G11778A así como el análisis mediante tomografía de coherencia óptica (TCO) (Cirrus HD-OCT, Carl Zeiss Meditec, Dublin, California, EE. UU.) de la capa de fibras de la retina peripapilar (CFNR) y de la capa de células ganglionares y la plexiforme interna de la retina (CCG/PI) mediante segmentación macular. DISCUSIÓN: El análisis de la mácula mediante segmentación con TCO (versión 6.0 de OCT-Cirrus) nos permite evaluar la CCG/PI sin la variabilidad interindividual de la CFNR peripapilar o por la presencia de edema en el disco óptico. En los casos que presentamos el análisis de la CFNR peripapilar no aporta información sobre el daño neuronal presente, que sí se evidencia en el estudio de la capa de CCG/PI


CASE REPORT: Two clinical cases are presented of two family relatives newly diagnosed with Leber hereditary optic neuropathy (LHON) and G11778A mutation analysis by optical coherence tomography (Cirrus HD-OCT, Carl Zeiss Meditec, Dublin, California, USA) layer peripapillary fibers retina (RNFL) and ganglion cell and internal plexiform layers (GCL/IPL) using macular segmentation. DISCUSSION: The analysis of the macula by OCT segmentation (version 6.0 Cirrus OCT) allows the GCL/IPL to be evaluated without the interindividual variability of peripapillary RNFL distribution or the presence of edema of the optic disc. When an analysis of the peripapillary RNFL, it does not provide information on this neuronal damage, which itself is evidence in the study of GCL/IPL


Subject(s)
Male , Humans , Optic Nerve Diseases/metabolism , Optic Nerve Diseases/pathology , Optic Atrophy, Hereditary, Leber/genetics , Optic Atrophy, Hereditary, Leber/metabolism , Macular Degeneration/complications , Macular Degeneration/pathology , Optic Nerve/abnormalities , Optic Nerve/cytology , Tomography/instrumentation , Optic Nerve Diseases/complications , Optic Nerve Diseases/diagnosis , Optic Atrophy, Hereditary, Leber/complications , Optic Atrophy, Hereditary, Leber/pathology , Macular Degeneration/genetics , Macular Degeneration/nursing , Optic Nerve/metabolism , Optic Nerve/pathology , Tomography/methods
8.
Arch. Soc. Esp. Oftalmol ; 90(4): 190-194, abr. 2015. ilus
Article in Spanish | IBECS | ID: ibc-136937

ABSTRACT

CASO CLÍNICO: Mujer de 22 años que consultó por cefalea y disminución de la visión. Presentaba papiledema asimétrico y, en las pruebas de imagen, un descenso amigdalar de 6 mm, siendo diagnosticada de hipertensión intracraneal idiopática coincidente con una malformación de Chiari (MC). DISCUSIÓN: La MC tipo I es la más frecuente de este grupo de malformaciones y se caracteriza por un descenso amigdalar superior a 5 mm, pudiendo originar hipertensión intracraneal por el bloqueo del líquido cefalorraquídeo. En este caso la MC no fue la responsable de la hipertensión intracraneal, sino una casualidad al coincidir ambos procesos


CASE REPORT: The case involves a 22-year-old woman who presented with headache and decreased vision. She showed asymmetric papilledema, and a 6-mm tonsillar descent was observed in the image tests. She was diagnosed with secondary intracranial hypertension coinciding with the symptoms of a Chiari malformation (MC). DISCUSSION: Chiari malformation type I is the most common in this group of malformations, and is characterized by a greater than 5 mm descent of the tonsils, being able to cause increased intracranial pressure and papilledema by blocking the flow of the cerebrospinal fluid. In this case, the MC was not the responsible for triggering the secondary intracranial hypertension, but a mere coincidence of both processes


Subject(s)
Female , Humans , Intracranial Hypertension/diagnosis , Intracranial Hypertension/metabolism , Budd-Chiari Syndrome/complications , Budd-Chiari Syndrome/diagnosis , Headache/complications , Headache/metabolism , Intracranial Hypertension/complications , Intracranial Hypertension/pathology , Budd-Chiari Syndrome/metabolism , Budd-Chiari Syndrome/pathology , Headache/classification , Headache/diagnosis
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