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

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

Crouzon's syndrome is an autosomal dominant disorder characterized by premature craniosynostosis leading to multiple ocular abnormalities and vision loss. Strabismus, optic atrophy, exposure keratitis, hypertelorism, nystagmus, and unexplained visual loss have been reported. Keratoconus has been described only once previously in a patient with other ocular abnormalities. This article reports bilateral keratoconus in a patient with Crouzon's syndrome without other ocular pathology. We emphasize the importance of early recognition and therapy of this treatable cause of decreased vision in Crouzon's syndrome.
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PMID:Bilateral keratoconus in Crouzon's syndrome. 813 12

Eyelid retraction in an adult occurs usually secondary to Graves' ophthalmopathy, but in children the diagnosis is often obscure. To our knowledge, there are no reports reviewing the relative frequency of the various etiologies of eyelid retraction in children. We reviewed the records of our Pediatric Service from 1976 to 1991 and identified 16 children with eyelid retraction. The eyelid retractions were unilateral in 11 cases and bilateral in five cases, and were the result of five different identifiable causes. Unilateral eyelid retraction was associated with congenital aberrant innervation of the third nerve (3), levator fibrosis (2), hemangioma (1), hyperthyroidism (1), craniosynostosis (1) and Down syndrome (1). Bilateral eyelid retraction was associated with either hyperthyroidism (2) or bilateral optic nerve anomalies with vertical nystagmus (2). Seven of our 11 patients with unilateral retraction had an identifiable etiology, and the remaining four patients had incomplete evaluations. Imaging studies were diagnostic in four of nine patients so studied. Based on our findings, we recommend thyroid studies in all patients with eyelid retraction without aberrant innervation, and neuroimaging if thyroid function is normal.
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PMID:Etiology of eyelid retraction in children: a retrospective study. 850 25

We report on two sisters off-spring of healthy consanguineous parents, where their major clinical features absent thumb, radial aplasia and craniosynostosis led to a diagnosis of Baller-Gerold syndrome BGS (OMIM:218600). Syndromes with associated preaxial reduction defects mainly Fanconi pancytopenia, VATER association, Rothmund-Thompson and Roberts phocomelia syndrome were excluded by proper clinical and cytogenetic studies. In addition to craniosynostosis and radial deficiency, our studied cases had absent or hypoplastic thumbs, postaxial polydactyly in the left foot, genital anomalies and orodental manifestations. Review of the literature depicted phenotypic variability of BGS. The presence of affected sibs the offspring of consanguineous parents confirms autosomal recessive inheritance. The observation of associated postaxial polydactyly, blue sclera, rotatory nystagmus, other skeletal and orodental anomalies broadened the spectrum of phenotypic variability. Awareness of the expanded phenotypic spectrum will improve the diagnosis and genetic counseling of BGS.
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PMID:Expanding the phenotypic spectrum of the Baller-Gerold syndrome. 1457 74

Aniridia, Wilms tumor, genitourinary abnormalities, growth and mental retardation are the cardinal features of the WAGR 11p13 deletion syndrome. The Potocki-Schaffer syndrome or proximal 11p deletion syndrome (previously DEFECT11 syndrome) is a contiguous gene syndrome associated with deletions in 11p11.2, principal features of which are multiple exostoses and enlarged parietal foramina. Mental handicap, facial dysmorphism and craniosynostosis may also be associated. We report a patient with combined WAGR and Potocki-Shaffer syndromes, and obesity. She presented with aniridia, cataract, nystagmus, corneal ulcers and bilateral congenital ptosis. A left nephroblastoma was detected at 15 months. Other features included moderate developmental delay, growth deficiency, facial dysmorphism, multiple exostoses and cranial lacunae. High-resolution and molecular cytogenetics confirmed a del(11)(p11.2p14.1) deletion with a proximal breakpoint between the cosmid DO8153 and the BAC RP11-104M24 to a distal breakpoint between cosmids CO8160 (D11S151) and F1238 (D11S1446). The deletion therefore includes EXT2, ALX4, WT1 and PAX6. This case appears to be the second patient reported with this combined deletion syndrome and confirms the association of obesity in the WAGR spectrum, a feature previously reported in four cases, and for which the acronym WAGRO has been suggested. Molecular and follow-up data on the original WAGRO case are briefly presented.
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PMID:Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion. 1570 31