RESUMEN
This study correlated anatomical findings and clinical evidence in Duane's Retraction Syndrome using brain MRI. The study included 11 patients with different types of Duane's Retraction Syndrome (DRS). Each patient underwent brain MRI. The VI(th) nerve was absent in all patients with DRS-I, present in all patients with DRS-II, while findings varied in patients with DRS-III. Our study confirms the literature on the usefulness of brain MRI in diagnosis of Duane's Retraction Syndrome in children.
RESUMEN
BACKGROUND: Neurofibromatosis type 2 (NF2) is a disorder usually diagnosed later in life since the features are subtle in children. The hallmark is bilateral vestibular schwannomas, which may not appear until after the second decade. Other cranial nerve schwannomas occur as well. In addition, there may be schwannomas of spinal nerve roots or peripheral nerves, as well as meningiomas, gliomas, and ependymomas. Here is described a rare case of NF2 associated with a superior rectus muscle paralysis and severe ptosis. A complex surgical procedure, which achieved satisfactory results, is also described. CASE REPORT: A 17-year-old patient with NF2 was referred to us with diagnosis of left-eye superior rectus muscle paralysis, with a later onset of unilateral severe ptosis. Best-corrected visual acuity was 20/20 in both eyes; pupillary reflexes to light and near vision were normal, and subcapsular posterior opacity of the lens was detected. Eye motility examination confirmed a left-eye superior rectus paralysis and a severe ptosis with almost absent palpebral levator muscle function. The patient showed positive familiar history for NF (the father was affected), bilateral involvement of the acoustic nerves (schwannoma), multiple neurofibromas, and bilateral posterior subcapsular lens opacity. Magnetic resonance imaging (MRI) showed bilateral acoustic neuromas in the left temporal region close to the cavernous sinus; since neurological examination and ocular motility problems had remained stationary over time, surgical correction of ptosis and strabismus was suggested. CONCLUSION: Palpebral ptosis has rarely been reported in NF2. In the case described, ptosis associated with rectus superior palsy was caused by expansive processes in the temporal region close to the cavernous sinus. In order to resolve ptosis and vertical diplopia, we performed a complex surgery that achieved satisfactory results.
Asunto(s)
Blefaroptosis/complicaciones , Neurofibromatosis 2/complicaciones , Músculos Oculomotores/patología , Oftalmoplejía/complicaciones , Adolescente , Blefaroptosis/diagnóstico , Blefaroptosis/cirugía , Humanos , Imagen por Resonancia Magnética , Masculino , Neurofibromatosis 2/diagnóstico , Neurofibromatosis 2/cirugía , Músculos Oculomotores/cirugía , Oftalmoplejía/diagnóstico , Oftalmoplejía/cirugía , Reflejo Pupilar , Agudeza VisualRESUMEN
PURPOSE: This study was designed to evaluate the prevalence of Helicobacter pylori infection in patients with central serous chorioretinopathy (CSC). METHODS: Retrospective observational case series. A group of 23 patients (22 men and 1 woman, age range 34-62 years, median age 47 years) with diagnosis of CSC, confirmed by fluorescein angiogram, and a control group of 23 consecutive patients (22 men and 1 woman, age range 41-69 years, median age 50 years) referred to our Department for retinal disease other than CSC were studied. Each patient provided peripheral venous blood samples and a stool specimen, which were analyzed at the Department of Gastroenterology and Microbiology at the same university. H. pylori infection was determined by measurement of IgG anti-bodies to H. pylori and by determination of H. pylori antigens in the stool specimens by enzyme-linked immunosorbent assay technique. Patients were defined as H. pylori infected if both tests were positive. RESULTS: The prevalence of H. pylori infection was 78.2% (95% CI, 56%-92%) in CSC patients and 43.5% (95% CI, 23%-65%) in control subjects (p<0.03 by two-tail ed Fisher exact test). The odds ratio for CSC associated with H. pylori infection was 4.6 (95% CI 1.28-16.9). CONCLUSIONS: The results of this study show that the prevalence of H. pylori infection seems to be significantly higher in patients with CSC than in control s. H. pylori infection may represent a risk factor in patients with CSC.
Asunto(s)
Enfermedades de la Coroides/epidemiología , Infecciones Bacterianas del Ojo/epidemiología , Infecciones por Helicobacter/epidemiología , Helicobacter pylori/aislamiento & purificación , Enfermedades de la Retina/epidemiología , Adulto , Anciano , Anticuerpos Antibacterianos/sangre , Antígenos Bacterianos/análisis , Enfermedades de la Coroides/microbiología , Ensayo de Inmunoadsorción Enzimática , Infecciones Bacterianas del Ojo/microbiología , Heces/microbiología , Femenino , Angiografía con Fluoresceína , Infecciones por Helicobacter/microbiología , Helicobacter pylori/inmunología , Humanos , Inmunoglobulina G/análisis , Italia/epidemiología , Masculino , Persona de Mediana Edad , Prevalencia , Enfermedades de la Retina/microbiología , Estudios Retrospectivos , Factores de RiesgoRESUMEN
PURPOSE: To describe the clinical manifestations in a patient with Sjögren reticular dystrophy of the retinal pigment epithelium, and the evolution of the disease over a 20-year follow-up period. CASE REPORT: A 45-year-old woman with Sjögren reticular dystrophy of the retinal pigment epithelium was seen for the first time in 1983; the patient underwent 20 years of annual check-ups. RESULTS: Over the follow-up period, fundus photographs, computerized perimetry, electroretinogram, and electro-oculogram findings had either normal or slightly subnormal outcome. CONCLUSIONS: The results confirm that this disease involves only the retinal pigment epithelium and should not be considered a central tapeto-retinal degeneration or late onset retinopathy.
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Epitelio Pigmentado Ocular/patología , Degeneración Retiniana/diagnóstico , Electrooculografía , Electrorretinografía , Femenino , Angiografía con Fluoresceína , Humanos , Persona de Mediana Edad , Pruebas del Campo Visual , Campos VisualesRESUMEN
Eye involvement in chronic myeloid leukemia is well known. The signs are infiltration of the choroid, the sclera, the episclera, the conjunctiva and the optic nerve. Eye involvement is more common in acute than in chronic forms of leukemia. This paper reports a case of chronic myeloid leukemia in which optic nerve involvement was the only initial sign of the disease.
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Neoplasias de los Nervios Craneales/diagnóstico , Leucemia Mielógena Crónica BCR-ABL Positiva/diagnóstico , Enfermedades del Nervio Óptico/diagnóstico , Neoplasias de los Nervios Craneales/complicaciones , Electrorretinografía , Humanos , Leucemia Mielógena Crónica BCR-ABL Positiva/complicaciones , Masculino , Persona de Mediana Edad , Enfermedades del Nervio Óptico/complicaciones , Papiledema/etiología , Campos VisualesRESUMEN
The activity of galactokinase in red blood cells of 30 patients affected by idiophatic presenile and senile cataract, and of 20 age-matched controls with perfectly transparent lenses, was investigated. The results obtained show a partial deficiency of the galactokinase activity in the patients affected by presenile idiopathic cataract. There is, moreover, a significant relationship between the cortical form of cataract and enzymatic reduction.
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Catarata/enzimología , Eritrocitos/enzimología , Galactoquinasa/metabolismo , Adulto , Anciano , Envejecimiento , Femenino , Galactoquinasa/deficiencia , Humanos , Masculino , Persona de Mediana EdadRESUMEN
Plasma samples obtained from Retinitis Pigmentosa (R.P.) patients and controls were assayed for docosahexaenoic acid (DXA), the major fatty acid in photoreceptor cells, in order to evaluate the possibility that abnormalities in PUFA metabolism could be involved in R.P. pathogenesis. Our preliminary results show levels of plasma DXA in dominantly inherited R.P. lower than in the recessive forms and controls.
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Ácidos Docosahexaenoicos/sangre , Retinitis Pigmentosa/sangre , Ácidos Grasos Insaturados/metabolismo , Genes Dominantes , Genes Recesivos , Humanos , Lípidos de la Membrana/metabolismo , Células Fotorreceptoras/metabolismo , Retinitis Pigmentosa/genéticaRESUMEN
The activity of galactokinase in red blood cells, has been assayed in 17 patients with idiopathic senile and presenile cataract and in 12 age-matched subjects with perfectly transparent lenses. 3 of the idiopathic cataract patients (17.6%) showed low erythrocytes GK activity, while nobody in the control group showed reduced GK activity. Although preliminary, our results seem to support the possibility that a chronic disorder of galactose metabolism may be involved in the pathogenesis of the idiopathic senile and presenile cataract.
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Catarata/enzimología , Eritrocitos/enzimología , Galactoquinasa/sangre , Adulto , Factores de Edad , Anciano , Catarata/clasificación , Galactoquinasa/deficiencia , Galactosa/metabolismo , Humanos , Persona de Mediana EdadRESUMEN
Hydrogen peroxide in the aqueous humor was measured in cataractous eyes from normal subjects and in cataractous eyes from diabetic subjects. The level of H2O2 in the aqueous humor was significantly higher in diabetes than in the idiopathic forms. It is likely that in the eye, impaired enzymic defenses lead to the accumulation of reactive species of O2, such as H2O2, which induces lipid peroxidation. This mechanism may be involved, as a direct consequence of retinal damage, in the pathogenesis of cataract in diabetes.
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Humor Acuoso/química , Catarata/etiología , Complicaciones de la Diabetes , Peróxido de Hidrógeno/análisis , Catarata/enzimología , Catarata/metabolismo , Diabetes Mellitus/metabolismo , Retinopatía Diabética/metabolismo , Radicales Libres , Humanos , Peroxidación de Lípido , Oxígeno/metabolismoRESUMEN
Free epsilon-amino groups in soluble and insoluble proteins were measured in clear human lenses and in diabetic and nondiabetic senile cataractous lenses. The free epsilon-amino group content of soluble and insoluble proteins was significantly lower in diabetic cataracts than in clear lenses and nondiabetic senile cataracts. Our results seem to demonstrate that nonenzymatic glycosylation of lens proteins could play a role in the pathogenesis of diabetic cataract.
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Aminas/metabolismo , Catarata/metabolismo , Cristalinas/metabolismo , Adulto , Anciano , Anciano de 80 o más Años , Catarata/complicaciones , Diabetes Mellitus Tipo 2/complicaciones , Femenino , Glicosilación , Humanos , Cristalino/metabolismo , Masculino , Persona de Mediana EdadRESUMEN
Cigarette smoke contains detectable amounts of cyanide, regardless of the type of cigarette. The very high levels of this compound in plasma of amblyopic smokers suggests that cyanide causes optic neuropathy. The detoxification of cyanide in man occurs through various metabolic pathway; the most important are those that use sulfur to transform cyanide into thiocyanate. One of the richest sources of reduced sulfhydryl groups is reduced glutathione (GSH). For this reason we investigated red cell GSH levels in non-smokers, in healthy smokers and in smokers affected by optic neuropathy to ascertain whether this compound is a marker of the disease. Red cell GSH levels in the non-smokers group were similar to those of affected smokers. On the contrary, GSH levels in healthy smokers were significantly more elevated. During therapy with vitamin E we noted that the concentration of GSH decreased with the progression of the disease and increased with recovery. Moreover, there was a good correlation between GSH levels and clinical findings. Our findings demonstrate that GSH plays a key role in the detoxification of cyanide and so it could be a marker of tobacco smoke-induced optic neuropathy.
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Eritrocitos/metabolismo , Glutatión/sangre , Enfermedades del Nervio Óptico/sangre , Fumar/efectos adversos , Adulto , Hemoglobinas/análisis , Humanos , Persona de Mediana Edad , Enfermedades del Nervio Óptico/tratamiento farmacológico , Enfermedades del Nervio Óptico/etiología , Vitamina E/administración & dosificación , Vitamina E/sangreRESUMEN
To investigate the role of lipid peroxidation in diabetic cataractogenesis, malondialdehyde, a breakdown product of lipid peroxidation, was measured in lenses with incipient opacities and in retinas from diabetic rats and in clear lenses and in retinas from normal rats. The malondialdehyde mean values obtained in the transparent and cataractous lenses showed non-significant differences, while non-diabetic rat retinas had a significantly lower mean level of malondialdehyde compared with diabetic rat retinas (p less than 0.01). This indicates that, in streptozotocin-induced diabetic rats, lipid peroxidation is apparently not involved in the development of cataract, but it is quite probably involved in retinal damage. The retina, richer in polyunsaturated fatty acids than other ocular structures, is the elective site of lipid peroxidation and from this membrane peroxidation products might probably diffuse and damage other ocular tissues.
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Catarata/etiología , Diabetes Mellitus Experimental/metabolismo , Cristalino/análisis , Peroxidación de Lípido/fisiología , Malondialdehído/análisis , Animales , Diabetes Mellitus Experimental/complicaciones , Diabetes Mellitus Experimental/fisiopatología , Cristalino/metabolismo , Malonatos , Malondialdehído/metabolismo , RatasRESUMEN
The activity of red blood cell galactose-1-P-uridyl transferase in 22 patients with congenital and infantile cataract and in 18 age-matched controls was investigated. All control subjects examined showed normal enzymatic levels, while 31.8% of patients with congenital and infantile cataract presented a statistically significant reduced enzymatic activity (mean--2 SD in controls). Twenty-four parents of children with congenital and infantile cataract were also examined. Four parents were affected by congenital cataract and the other 20 showed transparent lenses. The parents were compared with a group of 20 age-matched control subjects examined previously. There was no difference in the average enzymatic activities between the groups. The results suggest that a chronic disorder of galactose metabolism may be involved in the development of congenital and infantile cataract.
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Catarata/enzimología , Nucleotidiltransferasas/metabolismo , UDP-Glucosa-Hexosa-1-Fosfato Uridiltransferasa/metabolismo , Catarata/congénito , Catarata/genética , Niño , Preescolar , Eritrocitos/enzimología , Femenino , Humanos , Lactante , Masculino , Valores de ReferenciaRESUMEN
In vitro experimental evidence suggests tryptophan (TRP) is involved in protein modifications which could cause cataract formation in vivo. Previous studies of tryptophan plasma and serum metabolism are conflicting. In this study free and bound TRP plasma levels were measured in patients with senile cataract and in controls after an oral load of L-TRP (20 mg/kg b.w.). Free TRP levels were higher in patients than in controls one hour after L-TRP administration.
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Catarata/sangre , Triptófano/sangre , Administración Oral , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Triptófano/farmacologíaRESUMEN
Red cell glutathione has been assayed in a family affected by Leber's optic atrophy. The results are in agreement with a defective cyanide metabolism. The transmission mechanism of the disease is discussed. Lastly, a preventive and therapeutic approach is proposed.
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Eritrocitos/metabolismo , Glutatión/sangre , Atrofia Óptica/sangre , Adulto , Cianuros/metabolismo , Cisteína/uso terapéutico , Dieta , Humanos , Hidroxocobalamina/uso terapéutico , Masculino , Errores Innatos del Metabolismo/tratamiento farmacológico , Metionina/uso terapéutico , Atrofia Óptica/tratamiento farmacológico , Atrofia Óptica/genética , Linaje , FumarRESUMEN
Clinical report of a 23-year-old woman with total IgA-deficit, who had suffered for 2 years from a connective tissue disease similar to lupus erythematosus, with severe hemorrhagic retinitis but without any renal involvement.
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Enfermedades del Tejido Conjuntivo/complicaciones , Disgammaglobulinemia/complicaciones , Deficiencia de IgA , Lupus Eritematoso Sistémico/diagnóstico , Retinitis/complicaciones , Adulto , Diagnóstico Diferencial , Femenino , Hemorragia/complicaciones , Humanos , InflamaciónRESUMEN
Three children with flexion spasms and an ophthalmologic picture characterised by choroidal lacunae are described. Aicardi's syndrome was diagnosed in two cases. A diagnosis of Aicardi's syndrome should include CT scan and/or pneumoencephalographic findings of partial or total agenesis of the corpus callosum and/or other anomalies of the interhemispheric structures. Choroidal lacunae are not entirely pathognomonic.