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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Among 200 children who had received routine ophthalmic and orthoptic examinations as part of their evaluation by a multidisciplinary assessment team, it was found that there was a high incidence of ocular defects. These defects included refractive errors (98 children), squint (74 children), nystagmus (15 children), cataract, retinopathy and optic atrophy. This high incidence of ocular defects emphasized the need for the routine ophthalmic examination of developmentally handicapped children in order to detect and treat ocular conditions which might otherwise have gone undetected, and enabled the visual sense of these children to be evaluated in relationship to their general development.
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PMID:The ophthalmologist's role in multidisciplinary assessment of developmentally handicapped children. 13 Sep 99

A 5-year-old boy with monocular vertical nystagmus, initially believed to have spasmus nutans, subsequently developed optic atrophy and visual loss. Neuroradiologic investigation indicated probable chiasmal glioma. The case of this patient re-emphasizes the necessity of careful clinical and radiologic assessment before assuming acquired monocular nystagmus to be a benign and self-limited disorder.
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PMID:Monocular vertical nystagmus as an initial sign of chiasmal glioma. 43 58

A 21-year-old woman had typical clinical and biochemical findings of the cherry-red spot-myoclonus syndrome. She had 20/50 acuity in each eye, flutter-like ocular oscillations, rebound nystagmus, and transient vertical dissociation. Cherry-red maculas and optic atrophy were present. Although electroretinographic signals were normal, visual evoked potentials were almost absent. Levels of neuraminidase were significantly reduced in cultured ebroblasts from the patient and her parents, while lysosomal inclusions probably containing oligosaccharides were found in her conjunctival fibroblasts.
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PMID:Cherry-red spot-myoclonus syndrome. 55 58

This is a review of primary and secondary tumors of the optic nerve. The emphasis is an optic nerve gliomas and meningiomas. Optic nerve gliomas are slowly growing astrocytic neoplasms of the anterior visual pathways, the majority of which occur within the first two decades of life, with equal sex incidence in about 1 of 200,000 patients presenting with eye complaints. The incidence is greater in neurofibromatosis. The typical presentation is visual impairment in a verbal pre-school child with optic canal enlargement and optic atrophy. An intraorbital location of the tumor leads to axial, irreducible, non-pulsatile proptosis. An intracranial location may disturb hypothalamic and pituitary function and produce hydrocephalus. Ocular findings may also include limited motility on a mechanical-restrictive basis, a pupillary relative afferent defect, nystagmus, and variable, non-specific visual field defects. Roentgenographic studies may show concentric unilateral enlargement of the optic canal with preservation of a well corticated margin, a fossa under the anterior clinoid process in continuity with the optic canal ('J'-shaped sella), and findings of increased intracranial pressure. On pathologic examination the tumor is a smooth, fusiform, intradural enlargement of the optic nerve. Histologically there is proliferation of elongated (pilocytic) astrocytes in reticulated patterns with intervening microcystic spaces containing mucosubstance and surrounding reactive hyperplasia of the arachnoid. Mitoses are not found. The diagnosis is clinical X-ray studies and brain scan should be performed. The differential diagnosis is that of unilateral proptosis in a child and includes acute ethmoiditis, hyperthyrobidism, craniostenosis, other neoplasms, Hand-Schuller-Christian disease, and orbital hemorrhage due to trauma. Surgical resection is performed in cases with unilateral optic nerve involvement, the surgical approach being determined by tumor location. Bilateral or chiasmal cases are treated with radiotherapy when progression occurs. Malignant optic nerve gliomas and optic nerve hyperplasia are also discussed. Optic nerve meningiomas arise from the nerve sheath and are to be distinguished from orbital meningiomas arising from ectopic arachnoidal cells or those secondarily involving the orbit by extension from adjacent sites. Up to 80% of orbital meningiomas occur in females, in two age peaks, 25% in the first decade, and the rest in the 5th decade. Meningiomas present with visual loss and may produce proptosis, papilledema and/or optic atrophy, retinal striae, opticociliary shunts, limitation of extra-ocular movements, and lid edema, Signs of von Recklinghausen's disease should be sought. X-rays are the mainstay of diagnosis. Orbital meningiomas are composed of cells in sheets or in whorls with some spindle shaped cells. Calcifications are typical. Usually the dura is penetrated and the orbit invaded. Primary orbital meningiomas are locally infiltrating but do not metastasize. Complete local excision en bloc is recommended...
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PMID:Tumors of the optic nerve. 77 17

A systematic search for cases of adult-onset hereditary ataxia was conducted on location in Scotland. The investigation resulted in the discovery of eight pedigrees with 42 patients of whom 16 were alive in 1975. Nine patients were examined by the authors and recent hospital records were available on the remaining seven. The clinical features were quite variable. In declining order of frequency, findings were gait and limb ataxia, dysarthria, hyperreflexia, extrapyramidal motor disturbances, impaired vibratory sense, spasticity, defects of extraocular movements and nystagmus, reflex depression, Babinski signs, impaired joint position sense, muscle weakness, optic atrophy, and mental abnormalities. Foot deformity occurred only once. Inheritance was compatible with autosomal dominant transmission, but complicated by consanguinity in two families. The minimum prevalence was calculated as 0.31/100,000. Autopsy in two members in one family revealed olivopontocerebellar degeneration.
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PMID:Adult-onset hereditary ataxia in Scotland. 90 33

The hospital charts of 71 patients with congenital arteriovenous malformation of the head or neck, excluding carotid-cavernous sinus fistulas, yiedled 25 patients, referred to the ophthalmology service for examination. Of these, 22 patients had ocular findings; additionally, 12 patients with visual complaints or ocular findings were not referred for ocular examination. Forty-seven percent of all patients had ocular signs and symptoms including subjective visual complaints, visual field loss, ophthalmic artery pressure changes, nystagmus and motility findings, orbital and ocular vascular abnormalities, and fundus changes including optic atrophy, hypoxic retinopathy, and papilledema. Every patient with known or suspected arteriovenous malformation of the head or neck should have a thorough ocular examination. The findings can generally be correlated with the anatomic location and size of the lesion.
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PMID:Ocular findings in patients with arteriovenous malformations of the head and neck. 111 21

Seven cases of progressive familial myoclonus epilepsy occurring in three families are presented. The patients were in different stages of the illness. The EEG was abnormal in all. It is suggested that these cases belong clinically to the Lafora bodies group. Nystagmus and optic atrophy, seen in one patient, have not been described previously. Myoclonic jerks did not respond to treatment with diazepam and ethosuximide.
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PMID:Progressive familial myoclonus epilepsy. 118 22

During the period 1970-73, 1,046 children under 20 years of age were registered with the Canadian National Institute for the Blind. The three most common registration diagnoses were Cataract (13%), Optic Atrophy (12%) and Nystagmus (10%); Retrolental Fibroplasia was responsible for a smaller proportion (6%). Twenty per cent of the registration diagnoses were non-specific and included "Nystagmus", "Site or Type not Established", "Affection of Visual Centre" and "Amblyopia". Without a specific diagnosis one could not decide whether the blindness was due to genetic or environmental causes. It is recommended that the C.N.I.B. establish a procedure by which children with a non-specific registration diagnosis can be referred for further investigation.
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PMID:Causes of blindness in children. 1046 cases registered with the Canadian National Institute for the Blind 1970-1973. 119 67

A 63-year-old man developed gradually progressive bilateral loss of vision, cerebellar ataxia, and downbeat nystagmus. Visual acuity was 20/400 OD and 20/200 OS, with cecocentral scotomas OU. Fundus examination showed bilateral optic atrophy and a vitreous cellular reaction. MRI of the brain was normal. CSF protein was elevated, with increased IgG levels but no malignant cells. Biopsy of a pulmonary lymph node showed undifferentiated small cell carcinoma. Neoplastic cells were positive for neuron-specific enolase. Serum contained IgG, which reacted with neuronal and glial cytoplasm and processes. IgG reactivity with systemic tissues and the patient's tumor was not different from that observed with control sera. Paraneoplastic optic neuropathy should be considered in patients with unexplained visual loss and malignancy, and our observations suggest a possible immunologic basis for this condition.
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PMID:Optic neuropathy: a rare paraneoplastic syndrome. 132 6

In Hungary, the school-age prevalences of severe visual handicaps and of profound childhood deafness have been estimated to be about 6/10(4) and 10/10(4), respectively. Most of these conditions have onset at birth or in early childhood and are aetiologically heterogeneous. Severe visual handicaps are grouped under 11 aetiological categories, their relative contributions to the prevalence being: perinatal damage syndrome (20%; half of this is due to retinopathy of premature infants), cataracts (15%), choroidoretinal degenerations (15%), congenital abnormalities of the eye (15%), syndromes (10%), high myopia +/- retinal detachment (7%), postnatal causes (5%), nystagmus (5%), optic atrophy (4%), bilateral retinoblastoma (2%) and prenatal causes (2%). Overall, Mendelian conditions (included under many of the above) account for about 50% with relatively more autosomal dominant than autosomal recessive and sex-linked entities, and acquired causes account for about 40% of the cases studied. No aetiology could be assigned in 10% of the cases. For profound childhood deafness, the rank order of the aetiological categories is: autosomal recessive entities (34%), postnatal causes (22%), perinatal causes (19%), autosomal dominant entities (17%), prenatal causes (5%) and unknown causes (3%). Severe childhood visual handicaps are responsible for about 60 years of loss of life per 10(4) live births and about 400 years of impaired life per 10(4) live births. Genetic causes account for one-quarter of lost life years and three-quarters of impaired life years. The comparable estimates for profound childhood deafness are: about 240 years of life loss per 10(4) live births (again, about one-quarter due to genetic causes) and about 640 years of impaired life per 10(4) live births (about one-half due to genetic causes). In all these calculations, it has been assumed that the average life expectancy at birth for an individual in the population is 70 years.
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PMID:The load of genetic and partially genetic disease in man. IV. Severe visual handicaps and profound childhood deafness in Hungarian school-age children. 138 27


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