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At least 55 records · Page 3Linked to original sources
PubMed1990

[Kniest syndrome associated with eye abnormalities].

Development anomalies are described in a child involving the osteoarticular system and organ of vision. They were compared with the abnormalities described by other authors. The observed sings were recognized as belonging to the syndrome described in the literature as Kniest disease.

Abnormalities, Multiple↗
PubMed2000

[Facial hemangioma associated with arterial anomalies, coarctation of the aorta, and eye abnormalities: PHACES syndrome].

BACKGROUND: Hemangiomas are frequent in childhood. Their association with dysmorphic anomalies is rare. Recently, the acronym "PHACES syndrome" was proposed to emphasize the association of Posterior fossa malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and cardiac defects, Eye abnormalities, and Sternal malformations. CASE REPORT: A female child, 3 months old, had a large facial hemangioma. The physical examination was normal otherwise. A choroidal hemangioma and a papillary abnormality, causing amblyopia, were detected. The brain magnetic resonance imaging was normal. A subglottic hemangioma was found at endoscopy. At the age of 16 months, physical examination disclosed a heart murmur and coarctation of the aorta was detected. Moreover, the cardiac angiography showed diffuse arterial lesions. Strict surveillance was decided as there were no manifestations. DISCUSSION: Different abnormalities have been described to be associated with large facial hemangiomas. Frieden has grouped these abnormalities under the acronym PHACES. She described 43 hemangiomas and found 74 p. 100 Dandy Walker malformations and other posterior fossa malformations, 41 p. 100 arterial anomalies, 26 p. 100 cardiac or aortic malformations, 23 p. 100 ophthalmologic abnormalities. There is a high risk for the hemangiomas to develop in an airway localization. The prevalence of facial hemangiomas associated with other malformations is, to our knowledge, not known. In our department, 56 children were treated with corticosteroid therapy for severe facial hemangioma. 11 p. 100 had a cerebral abnormality. There were no cases with cardiac malformation or dysmorphism. PHACES syndrome is very rare but easy to remember. Thus in patients presenting a large facial hemangioma, it is important to conduct an attentive neurological examination completed by brain imaging and an extensive cardiovascular exploration. Special attention should be given to the ophthalmologic and sternal examinations as well as the search for hemangiomas in an airway localization.

Aortic Coarctation↗
PubMed1991

Spontaneous hyphaema as a result of systemic anticoagulation in previously abnormal eyes.

Spontaneous hyphaema in patients on systemic anticoagulants has been described in normal eyes and also in eyes with certain intraocular lenses following cataract surgery. These cases are rare and in all the reported cases the hyphaemas resolved without sequelae. Four cases are reported here of spontaneous hyphaemas in previously abnormal eyes of patients on anticoagulants. Three of these patients suffered considerable pain as a result of this. The reasons for this are discussed and early ophthalmic referral recommended if a hyphaema is suspected in these situations.

Adult↗
PubMed2006

Maxillary calcifying epithelial odontogenic (Pindborg) tumor presenting with abnormal eye signs: case report and literature review.

Calcifying epithelial odontogenic tumors (CEOT) are uncommon, accounting for less than 1% of all odontogenic tumors. The CEOT, since its description by Pindborg in 1958 as a separate pathologic entity, is commonly known as the Pindborg tumor. We present an unusual case of such a tumor in the maxilla presenting with abnormal eye signs. The case demonstrates the use of a Le Fort I down-fracture osteotomy approach to maxillary tumors.

Adult↗
PubMed1999

Neuropharmacologic aspects of the ocular motor system and the treatment of abnormal eye movements.

Neuropharmacology is aiding our understanding of the control of eye movements in at least three ways. First, neurotransmitters have been identified in the pathways that coordinate gaze. Second, the technique of pharmacologic inactivation has provided a powerful method to determine the contributions of populations of neurons to specific behaviors, such as steady gaze holding. Finally, the results of basic neuropharmacologic studies have been used to identify candidate drugs for therapeutic trials of abnormal eye movements.

Abducens Nerve↗
PubMed1992

The objective assessment of abnormal eye movements in infants and young children.

Recordings of eye movements from infants and young children can be of clinical value in patients with certain neuro-ophthalmological problems. This requires that the characteristics of normal eye movements in this same age-group are known. Using an electro-oculographic technique in a specially developed laboratory we have been able to assess the saccades, binocular and monocular smooth pursuit, binocular and monocular optokinetic nystagmus (OKN), and sustained vestibular rotation in infants and young children; these recordings were performed in one session lasting approximately 35 minutes. The recordings from four children with abnormal eye movements (delayed visual maturation, hemicerebral cyst, congenital ocular motor apraxia, and gaze-paretic nystagmus) are briefly reported and compared to normal eye movements of age-related children. The limitations of this procedure are discussed.

Adolescent↗
PubMed2005

Potential role of anti-GAD antibodies in abnormal eye movements.

Glutamic acid decarboxylase (GAD) catalyzes the conversion of glutamic acid to gamma-aminobutyric acid (GABA). Autoantibodies directed against GAD (antiGAD-Ab) have been described in patients with insulin-dependent diabetes mellitus, stiff-man syndrome, and in a few patients with progressive cerebellar ataxia. The presence of these autoantibodies suggests an autoimmune pathophysiological mechanism for the neurological manifestations in these disorders. However, the exact role of antiGAD-Ab and GABAergic neurotransmission in the pathogenesis of the neurological manifestations, particularly in progressive cerebellar ataxia, is not fully understood. The cases of two patients with subacute cerebellar ataxia associated with antiGAD-Ab presenting with abnormal eye movements are reported. One patient presented a periodic alternating nystagmus (PAN), whereas the other presented a downbeat nystagmus (DBN) and slow vertical saccades. The potential role of antiGAD-Ab and the resultant GABAergic neurotransmission deficit in oculomotor manifestations is discussed.

Aged↗
PubMed1985

Recent development of the study on clinical significance of abnormal eye movement.

As a general trend, the diagnosis in medical clinics often depends on laboratory test results. Neurotological diagnosis, however, requires detailed neurological examinations on a patient by a neurotologist. Therefore, there are differing diagnostic skills among physicians, and there is a kind of "man-made flavor" in neurotological diagnostic procedure. In the present study, current development in the knowledge on the clinical diagnostic significance of pathological eye movement during the last 2-3 years is summarized. Acquired pendular wondering eye-movement. Fixation jerks. Spontaneous and transitory eyeball burst or seizure. Vertical rebound nystagmus. Optokinetic vertical ocular dysmetria. Divergence nystagmus. Counterolling, pure rotatory positioning nystagmus. Inversion of optokinetic after-nystagmus (OKAN). Vertical congenital nystagmus and inversion of optokinetic nystagmus (OKN). Treatment of congenital nystagmus. Vertical spontaneous nystagmus to lower eyelid or so-called "downbeat nystagmus." Downbeat nystagmus seen in bilateral labyrinthine dysfunction. The significance of bilateral vestibular lesion, or symmetric lesion in other is emphasized in the present report for reader's reference and criticism. Our experience on the clinical significance of the abnormal eye movement was reported. It is our wish that accumulation of data on important cases along with the results of experimental studies directly connected with clinical medicine may contribute to the progress of our neurotology in the right direction as "neurology of the posterior fossa."

Cerebellar Diseases↗
PubMed1993

Congenital muscular dystrophy, brain and eye abnormalities: one or more clinical entities?

Four children with congenital muscular dystrophy (CMD), eye and brain abnormalities are described. Their clinical and neuroradiological features are compatible with a diagnosis of Walker-Warburg syndrome (WWS), according to the criteria proposed by Dobyns et al. (i.e., presence of type II lissencephaly, typical cerebellar and retinal malformations, CMD), who also conclude that WWS is indistinguishable from the muscle-eye-brain disease (MEBD) described by Santavuori. On the basis of our own experience and two recently published series, we emphasize certain features that are different in patients with WWS and patients with MEBD, which make their inclusion in the same syndrome dubious.

Abnormalities, Multiple↗
PubMed1993

Fellow eye abnormalities in acute unilateral optic neuritis. Experience of the optic neuritis treatment trial.

BACKGROUND: Visual function in the fellow eye at the onset of unilateral optic neuritis has not been systematically evaluated. The authors prospectively determined the prevalence of abnormalities in the fellow eyes of the 448 eligible patients entered into the Optic Neuritis Treatment Trial. METHODS: All patients underwent testing of visual acuity, contrast sensitivity, color vision, and visual field, as well as magnetic resonance imaging (MRI) of the brain and a neurologic examination. RESULTS: Abnormalities in the fellow eye were found on measurement of visual acuity in 13.8%, contrast sensitivity in 15.4%, color vision in 21.7%, and visual field in 48.0% of patients. The majority of the fellow eye deficits resolved over several months. A higher prevalence of MRI changes consistent with demyelination of the brain was found in patients with a past history of optic neuritis in the fellow eye compared with patients without such a history (P = 0.004). Patients with abnormal fellow eyes but no history of previous optic neuritis were no more likely to have clinical (P = 0.658) or MRI evidence (P = 0.166) of multiple sclerosis than patients with normal fellow eyes. CONCLUSIONS: The improvement of many of the visual deficits indicates that visual abnormalities detected in the fellow eye at the onset of symptomatically unilateral optic neuritis may not represent preexisting optic nerve demyelination. Whether the presence of these deficits is predictive of the development of clinical multiple sclerosis cannot be determined at this time.

Acute Disease↗
PubMed1984

Congenital hydrocephalus and eye abnormalities with severe developmental brain defects: Warburg's syndrome.

Five patients are reported with Warburg's syndrome, characterized by: (1) congenital hydrocephalus, (2) severe neonatal neurological dysfunction, (3) abnormalities of the anterior and posterior chambers of the eyes, (4) absence of known cause, and (5) severe developmental abnormalities of cortical gyration and architectonics. Fourteen similar published cases are reviewed. The syndrome can be diagnosed during life on the conjunction of the first four features listed. Evidence is adduced that this syndrome is a genetically determined condition with an autosomal recessive mode of inheritance and with a 25% recurrence risk for offspring of the parents of an affected infant.

Abnormalities, Multiple↗