RESUMEN
A family with hereditary optic neuropathy was investigated. Visual acuity, Goldmann perimetry, colour vision test, fundoscopy and electrophysiological examination (flash and pattern ERG and VER) were performed. The pattern of inheritance and the results of all these tests are discussed in this article.
Asunto(s)
Neuritis Óptica/genética , Adolescente , Adulto , Factores de Edad , Niño , Percepción de Color , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neuritis Óptica/fisiopatología , Linaje , Pruebas de Visión , Agudeza Visual , Campos VisualesRESUMEN
The characteristic morphology of a not intentionally stimulated hyalocyte is described, using TEM and perfusion fixation. The best results were obtained by retrograde perfusion via the abdominal aorta with a glutaraldehyde- and formaldehyde-containing fixative. The cells, situated in the cortical area of the vitreous body, show mostly an indented nucleus, primary and secondary lysosomes, mitochondria, cisterna, clusters of free ribosomes and a Golgi apparatus. Bristle-coated micropinocytotic vesicles can also be distinguished and in some cells a centriole is visible. Sometimes the cells show many cytoplasmic protuberances. Morphologically the majority of those cells can be considered as resting macrophages.