Cases reported "Blindness"

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1/148. Transient paralytic attacks of obscure nature: the question of non-convulsive seizure paralysis.

    Eleven patients with transient paralytic attacks of obscure nature are described. paralysis could involve face or leg alone, face and hand, or face, arm and leg. The duration varied from two minutes to one day. Four patients had brain tumors, six probably had brain infarcts, and one a degenerative process. The differential diagnosis included TIAs, migraine accompaniments, and seizures. In the absence of good evidence for the first two, the cases are discussed from the standpoint of possibly representing nonconvulsive seizure paralysis (ictal paralysis, inhibitory seizure paralysis or somatic inhibitory seizure). Because of the difficulty in defining seizures as well as TIAs and migraine in their atypical variations, a firm conclusion concerning the mechanisms of the spells was not attained. Two cases of the hypertensive amaurosis-seizure syndrome have been added as further examples of ictal deficits.
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ranking = 1
keywords = amaurosis
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2/148. arachnoiditis and VECP change.

    A five-year-old boy presented with tuberculous meningitis and subsequently developed amaurosis with optochiasmatic arachnoiditis (OCA) late in the convalescent stage of the illness. The visual evoked cortical potentials were correlated with the decreased and improved postoperative acuity. The diagnosis and classification of OCA have been discussed with emphasis given to prompt neurosurgical treatment.
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ranking = 1
keywords = amaurosis
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3/148. Agenesis of the corpus callosum in a child with Leber's congenital amaurosis.

    A 2.5-year-old male infant with agenesis of the corpus callosum and Leber's congenital amaurosis is described. The infant had nystagmus as the presenting sign. The fundi showed circumscribed macular atrophy with encircling retinal pigment epithelial hyperplasia (macular coloboma-like lesions), attenuation of the retinal arterioles, and very fine pigment dusting in the peripheral retina. Photopic and scotopic ERG were extinguished. Even though this is an exceedingly rare association, these findings along with neurological symptoms should alert the physician to conduct prompt cranial imaging.
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ranking = 37.83277315106
keywords = congenital amaurosis, amaurosis
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4/148. Visual recovery after a year of craniopharyngioma-related amaurosis: report of a nine-year-old child and a review of pathophysiologic mechanisms.

    BACKGROUND: The probability of visual recovery in tumor-related optic neuropathy usually correlates with the severity and duration of optic pathway compromise. Recovery of visual acuity to normal levels is unexpected after profound loss of vision extending for a period of weeks and months. methods: A 9-year-old girl who had neurosurgical resection of a craniopharyngioma compressing the optic chiasm and optic tract was followed up serially with neuroimaging and clinical examinations over a 6-year period. RESULTS: Within 3 months of the diagnosis of craniopharyngioma, the girl's vision was reduced to no-light-perception blindness when she viewed with the more involved eye. The blindness correlated with an amaurotic (i.e., >3.6 log unit) relative afferent pupillary defect and an absence of any response when tested with visual field perimetry. After more than a year of total blindness and cessation of all neurosurgical and radiation therapy, visual acuity recovered to a normal level (20/25), the afferent pupillary defect improved, and sensitivity in a portion of the temporal hemivisual field was restored. In the follow-up that has extended for 5 years from the time of recovery, stability of the restored vision has been documented. CONCLUSION: Children who have tumor-related loss of vision due to damage to the anterior visual pathways may be capable of recovery after intervals of blindness that would be considered irreversible in adults. The mechanism of the recovery in our patient may have been decompression-related restoration of axoplasmic flow, followed by gradual remyelination of visual fibers, which allowed reorganization of connections to the lateral geniculate nucleus to optimize synaptic transmission.
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ranking = 4
keywords = amaurosis
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5/148. Recurrent keratoconus in a patient with leber congenital amaurosis.

    PURPOSE: Clinical history of a 17-year-old patient with leber congenital amaurosis (LCA) with histologically proven recurrent keratoconus (KC) two years after corneal transplantation in one eye and a recurrence-like appearance with a more global contour on the other eye four years after corneal grafting is reported. The possible mechanisms for this recurrence are discussed in light of the fact that this is, to the best of our knowledge, the first penetrating keratoplasty reported in LCA. methods: Computerized videokeratography (CVKG) and specular microscopy were performed preoperatively. The patient underwent regrafting, and the excised corneal button was examined by light microscopy and transmission electron microscopy. RESULTS: Analysis of CVKG showed a keratoconus-like pattern on the right eye, with the left eye demonstrating the aspects usually seen in keratoglobus. Histologic examination revealed the features usually observed in progressed keratoconus. CONCLUSION: recurrence of keratoconus in a graft has not yet been described after such a short time until now. A "true" recurrence of the disease is postulated; it could be caused by an "aggressive" genetic factor that also leads to the frequent KC in patients with LCA. This mechanism also could explain the high incidence and rapid progress of KC in this disease.
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ranking = 37.83277315106
keywords = congenital amaurosis, amaurosis
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6/148. Gaze-evoked amaurosis produced by intraorbital buckshot pellet.

    OBJECTIVE: To report the first case of gaze-evoked amaurosis secondary to an intraocular foreign body and to highlight the characteristic clinical findings of patients with this symptom. DESIGN: Case report and review of the literature. methods: Case review, clinical history, electrophysiologic testing, and follow-up. MAIN OUTCOME MEASURES: visual acuity, automated perimetry, and visual fields. RESULTS: A case of gaze-evoked amaurosis as a result of an intraorbital foreign body is described, and 19 additional cases of gaze-evoked amaurosis are reviewed from the English language literature. These cases share certain characteristics including good vision in primary position with deterioration of vision in eccentric gaze; concurrent objective pupillary abnormalities in eccentric gaze; stereotypic onset and recovery of vision; and funduscopic abnormalities consisting of disc edema and chorioretinal folds. CONCLUSIONS: Gaze-evoked amaurosis is a reliable sign of intraconal mass lesion. We report the first case of gaze-evoked amaurosis secondary to an intraorbital foreign body.
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ranking = 9
keywords = amaurosis
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7/148. Chemosis, proptosis and amaurosis in a 19-year-old male.

    An ectopic pinealoma was excised in 1966 and the patient received radiotherapy postoperatively. The patient developed diabeted insipidus, hypopituitarism, chemosis, proptosis, and loss of vision in the left eye. The left eye was enucleated in 1974 and a large orbital mass was found to contain malignant cells consistent with the diagnosis of germinoma. The orbital mass was in all likelihood a metastasis from the original focus of the tumor.
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ranking = 4
keywords = amaurosis
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8/148. Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis.

    PURPOSE: To report a novel de novo mutation in the cone-rod homeobox (CRX) gene in a Japanese patient with leber congenital amaurosis (LCA). methods: The CRX gene was analyzed by direct genomic sequencing in a patient with LCA and in his healthy parents. A complete ophthalmologic examination was performed on the family. RESULTS: A heterozygotic deletion of G at nucleotid 520 in CRX, predicting a frameshift in codon 174 and a premature termination of translation [Ala174(1-bp del)], was identified in the proband. The mutation was not present in his unaffected parents. CONCLUSION: A novel de novo mutation in CRX was found in a Japanese patient with LCA.
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ranking = 64.091436672402
keywords = congenital amaurosis, leber congenital amaurosis, amaurosis, leber
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9/148. Permanent blindness as a complication of pregnancy induced hypertension.

    BACKGROUND: Visual disturbances are common symptoms of preeclampsia, but blindness remains a rare phenomenon. CASE: A 21-year-old secundagravida was admitted at 3547 weeks' gestation with a diagnosis of preeclampsia. She labored on her second hospital day and underwent a cesarean delivery for nonreassuring fetal status. On postoperative day 1, she reported blurring of her vision that progressed rapidly to complete vision loss. Ophthalmological examination revealed ischemic retinal changes bilaterally; radiographic examination showed lesions in the lateral geniculate bodies, consistent with infarcts, as the possible etiologies of her blindness. Five months later, the patient has not regained her sight and remains legally blind. CONCLUSION: Complete amaurosis is a rare complication of pregnancy demanding immediate ophthalmological and neurological evaluation as well as radiographic studies of the brain.
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ranking = 1
keywords = amaurosis
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10/148. Senior-Loken syndrome (nephronophthisis and tapeto-retinal degeneration): a study of 8 cases from 5 families.

    The association of nephronophthisis and tapeto-retional degeneration was described by both Senior and Loken in 1961, but prior to 1974 only 28 cases had been published. This report describes 8 new cases in 27 members of 5 families. The severe juvenile type produces blindness in infancy and death from renal failure before the age of ten. The adult type is characterized by later onset, slower progression of the renal disease and milder ocular manifestations. The eye disease may be congenital amaurosis of Leber type, pigmentary retinal degeneration or retinitis punctata albescens and the electroretinogram (ERG) is of value in the diagnosis of these varieties of hereditary tapeto-retinal degeneration. Renal involvement is often asymptomatic. Defective urinary concentration leading to polyuria and polydipsia is the earliest sign. proteinuria is inconstant and urinary sediment is often normal. Two patients had aminoaciduria. The disease progresses inexorably to chronic renal failure. One patient has been successfully transplanted and two others are on chronic hemodialysis. Renal histological changes are those of nephronophthisis with tubulointerstitial lesions and multiple cysts. Senior-Loken syndrome appears to be transmitted by a single autosomal recessive pleotropic gene of variable expression. Degeneration of neuroepithelium and renal tubular epithelium, both tissues of ectodermal origin, may represent a genetically determined enzyme abnormality.
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ranking = 7.566554630212
keywords = congenital amaurosis, amaurosis
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