RESUMEN
To record the electro-oculogram in infants without using general anesthesia and passive globe rotation, we used the static vestibular reflex in which compensatory eye movements occur in response to angular rotation of the semicircular canal. To produce these eye movements, we placed the infant in a supine position in his mother's arms in a rocking chair and, while he nursed from a bottle, directed his attention to a distracting stimulus. We recorded the electro-oculogram during rocking under conditions of light and dark adaptation. We used the electro-oculograms to calculate the conventional light-to-dark amplitude ratio.
Asunto(s)
Electrooculografía , Movimientos Oculares , Humanos , LactanteRESUMEN
We studied the electroretinogram in normal patients, patients with opacities of the anterior segment, and patients with vitreous hemorrage, using a high-intensity light stimulus delivered either through the sclera or through the pupil. We found the response obtained with transscleral stimulation a consistent indicator of gross retinal function. Since the stimulus entered the eye through the sclera, it provided a method for studying the retinal responses independent of opaque or translucent media.
Asunto(s)
Electrorretinografía/métodos , Esclerótica , Opacidad de la Córnea/diagnóstico , Retinopatía Diabética/diagnóstico , Electrorretinografía/instrumentación , Humanos , Pupila , Hemorragia Retiniana/diagnósticoRESUMEN
Four patients in three different families had a form of autosomal recessive incomplete achromatopsia not previously described. The visual acuity was 6/18 to 6/60 (20/60 to 20/200) with minimal ophthalmoscopic abnormality and normal fluorescein angiogram. The photopic electroretinographic responses were present in all four patients; the fusion rate of 60 Hz was only slightly subnormal. The high-intensity scotopic response was subnormal. The patients failed color screening plates and accumulated over 400 errors with scotopic axis on the Farnsworth-Munsell 100-hue test. The Rayleigh match was abnormal, displaced toward the red primary, but with normal luminance. The photopic luminous efficiency function was similar to that of the deuteranope. Color matching revealed a trichromatic form of color vision mediated by long wavelength and short wavelength cones, and a rhodopsin receptor.
Asunto(s)
Defectos de la Visión Cromática/genética , Retina/fisiopatología , Adolescente , Adulto , Niño , Pruebas de Percepción de Colores , Defectos de la Visión Cromática/diagnóstico , Defectos de la Visión Cromática/fisiopatología , Adaptación a la Oscuridad , Electrooculografía , Electrorretinografía , Femenino , Angiografía con Fluoresceína , Genes Recesivos , Humanos , Masculino , Linaje , Refracción Ocular , Agudeza Visual , Campos VisualesRESUMEN
A 23-year-old man had slow psychomotor development at 6 months of age and developed intermittent corneal clouding at about 18 months. He developed a truncal ataxia and hypotonia of the limbs combined with spasticity and active deep reflexes that did not progress. His skeleton and facies were normal. Between 1 and 13 years of age, he developed severe optic atrophy, absence of retinal blood vessels, and an extinguished electroretinogram. Biochemical analysis of cultured fibroblasts indicated no lysosomal hydrolase deficiency; cellular metachromasia was absent and there was no mucopolysaccharidoses. Ultrastructural studies indicated single-membrane-limited vacuoles containing lamellated membranes and a polymorphous substance in tissue-cultured cells and conjunctiva.
Asunto(s)
Errores Innatos del Metabolismo de los Carbohidratos/complicaciones , Opacidad de la Córnea/genética , Cuerpos de Inclusión , Trastornos Psicomotores/genética , Degeneración Retiniana/genética , Adolescente , Adulto , Errores Innatos del Metabolismo de los Carbohidratos/enzimología , Errores Innatos del Metabolismo de los Carbohidratos/patología , Conjuntiva/patología , Técnicas de Cultivo , Fibroblastos/enzimología , Fibroblastos/ultraestructura , Humanos , Cuerpos de Inclusión/ultraestructura , Lactante , Lisosomas/metabolismo , Masculino , Piel/patologíaRESUMEN
Dizygotic twins developed a progressive neurologic disorder at age 6 months. When examined at age 7 1/2 years each had spastic quadriparesis and dystonia. Neither had ever spoken a complete sentence. The fundi showed bone spicule formation, a conspicuous choroidal circulation, and a striking accumulation of yellowish-white globular masses of varying sizes and shapes. Because our patients developed both the pigmentary degeneration and clinical signs of Hallervorden-Spatz syndrome at a much younger age than patients without retinopathy, we believe this case demonstrated a distinct nosologic entity.
Asunto(s)
Enfermedades de los Ganglios Basales/genética , Enfermedades en Gemelos , Neurodegeneración Asociada a Pantotenato Quinasa/genética , Epitelio Pigmentado Ocular , Degeneración Retiniana/genética , Niño , Femenino , Humanos , Masculino , Embarazo , Gemelos DicigóticosRESUMEN
Linear bead-like pigmentation in choroidal folds and diffuse nonspecific retinal pigment epithelial proliferation are seen in long-study choroidal folds. In addition there may be linear streaks of scleral staining.
Asunto(s)
Coroides/patología , Retina/patología , Adulto , Exoftalmia/complicaciones , Femenino , Angiografía con Fluoresceína , Humanos , Masculino , Persona de Mediana Edad , Neoplasias Orbitales/complicaciones , Papiledema/complicaciones , Epitelio Pigmentado Ocular/patología , Vasos Retinianos/patología , Esclerótica/patología , Enfermedades de la Úvea/etiología , Enfermedades de la Úvea/patologíaRESUMEN
A man now 22 years of age had slow psychomotor development about 6 months after birth and developed intermittent corneal clouding at about 18 months. He developed truncal ataxia, hypotonia of the limbs combined with spasticity, and active deep reflexes. These have not progressed. His skeleton and facies are normal. Between his first and thriteenth year he developed sev ere optic atrophy, absence of retinal blood vessels, and an extinguished electroretinogram. Biochemical analysis of cultured fibroblasts indicated no lysosomal hydrolase deficiency; cellular metachromasia was absent and there was no mucopolysaccharidoses. Ultrastructural studies indicated single membrane vacuoles containing lamellated membranes and a polymorphous substance in tissue cultured cells and conjunctiva.