[Abnormalities of the eye cavity].
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Child↗
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[Developmental abnormalities of the eye].
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Animals↗
Sylvian aqueduct syndrome. Chronology of tumors in the pineal region in view of ocular movement.
We experienced 21 cases of tumors (13 of pinealoma of the two-cell pattern and eight of tumors originating from the posterior part of the third ventricle). We carefully observed the eye movements of these patients during their respective clinical courses and found changes in abnormal eye movements along with remission following cobalt irradiation therapy or ventriculo-peritoneal shunt as well as with relapse on recurrence of tumors. From the neurotological viewpoint, we divided the development of these abnormal eye movements into four chronological stages. We emphasized the importance of the early diagnosis of tumors manifesting Sylvian aqueduct syndrome. Careful observation and analysis of eye movement will be a great help in making diagnoses as well as decisions for further examination and treatment.
Adult↗
Morphological and genetic characteristics of the open-eyelid mutant spontaneously occurring in NC-strain mice.
A heritable open-eyelid mutant which arose spontaneously in the NC strain of mouse in 1982 has been maintained as the NC-eob line through brother-sister matings. When the line exceeded the 12th generation, its reproductive capabilities were initially compared with those of the NC strain. Then eye abnormalities were investigated morphologically and genetically. Although most of the reproductive parameters in the NC-eob line were comparable to those in the NC strain, a significant decrease was observed in the mean number of pups delivered, and the viability of pups at 7 days of age was reduced to 55%. The eyelids of pups were widely open at birth. The exposed cornea dried within a few hours and a bloody exudate appeared around the margin of the eyelids. At 1 day of age, the eye opening was smaller in size and covered with a scab. Histological examination demonstrated apparent inflammatory changes in the cornea and conjunctiva. At 21 days of age, the eyes revealed opacity, a rough surface, and microphthalmia. Histological findings in the cornea, such as keratosis and vascularization, coincided with the eye opacity. The weight and size of the eyeballs were almost the same as those in normal NC pups. However, a significant decrease in the length of the palpebral rima was evident and this was considered to be the cause of the microphthalmia. The results of genetic analysis indicated that these eye abnormalities were caused by an autosomal recessive gene, eob. These results suggested that the eob gene might be a new mutation manifesting semi-lethality as a pleiotropic effect.
Animals↗
Brain morphology, dopamine, and eye-tracking abnormalities in first-episode schizophrenia. Prevalence and clinical correlates.
OBJECTIVE: To characterize the pathophysiology of schizophrenia and to identify biologic markers in first-episode patients with no or little prior treatment exposure. DESIGN: Prospective study of an inception cohort. SETTING: Psychiatric division of an academic medical center with a suburban metropolitan catchment area. PATIENTS: 70 patients in their first episode of schizophrenia (77%) or schizoaffective disorder (23%) with no (70%) or limited prior neuroleptic exposure (30%), and 50 healthy volunteer control subjects. ASSESSMENT MEASURES: Demographic and clinical evaluations of natural history and psychopathology; methylphenidate hydrochloride and apomorphine hydrochloride stimulation tests as measures of central nervous system dopamine activity; brain magnetic resonance imaging; eye-tracking examinations. RESULTS: Preliminary analyses demonstrate that pathobiologic features previously identified in heterogeneous and primarily chronically ill patients are also present in subgroups during their first episode. These include psychotogenic response to methylphenidate (59%), abnormal growth hormone (GH) secretion (50%), abnormal brain morphology (31%), and eye-tracking dysfunction (51%). An association of pathobiologic variables with increased symptom severity and earlier age of onset was observed but not statistically significant. The strongest associations among biologic variables were for the following: GH secretion and psychotogenic response to methylphenidate, which may reflect increased dopamine agonist neural activity; decreased GH response to apomorphine and third-ventricle enlargement, which may represent a neuropathologic correlate of anterior pituitary abnormalities; and morphologic abnormalities of the medial temporal lobe and third ventricle were associated with normal eye tracking, suggesting that these pathobiologic features are mediated by distinct processes. CONCLUSIONS: These phenomena appear to be a consequence of the disease rather than the effects of chronicity, drug treatment, or institutionalization. It remains to be determined if these biologic phenomena will remain stable over time or change with disease progression. A companion article examines the clinical significance of these findings.
Adolescent↗
Head nodding associated with intermittent esotropia.
Head nodding (to-and-fro turning about the vertical cervical axis) associated with abnormal eye movements may be seen in spasmus nutans and congenital nystagmus. In the absence of abnormal eye movements, it may be indicative of neurological disease (eg, cerebellar disease, basal ganglia dysfunction). We report a neurologically normal infant without nystagmus but with intermittent head nodding and intermittent esotropia, whose head movements manifested only when his eyes were straight. The head movements ceased with the occlusion of either eye or spontaneous onset of esotropia. When his head was forcibly stabilized, he immediately developed esotropia. The head movement presumably facilitated fusion, although the mechanism of action is unknown.
Esotropia↗
Ultrastructure of trypan blue induced ocular defects: I. Retina and lens.
The histological and cytological basis of trypan blue-induced ocular defects were studied using scanning and transmission electron microscopy. Microphthalmic and anophthalmic eyes of 16-day rat fetuses were utilized from dams exposed to a teratogenic dose of trypan blue. Retinal and lenticular anlagen were specifically examined for architectural and cellular changes. Nearly all severely abnormal eyes showed no evidence of retina development: Of 41 such eyes, only two retinal rudiments were observed. Those eyes with mild microphthalmia always demonstrated retinae although architectural changes were present. In every abnormal eye, some degree of lenticular morphogenesis was always present. Lenses were small, displaced in the eye field, and arrested at the lens vesicle stage. Lens cells were markedly undifferentiated and thus lacked most of the cytological features normally present at this developmental stage. Neither retinal nor lenticular rudiments were necrotic despite major architectural and cytological disturbances. The data offer three conclusions: First, the absence of necrosis suggests that trypan blue causes developmental arrest in this eye model; second, absence of retinae is most likely due to primary failure of optic vesicle development; third, lack of lens differentiation is attributed to absence of the retina, the primary lens inducer.
Abnormalities, Drug-Induced↗
An unusually large human eye with abnormal scleral collagen.
Severe progressive ocular enlargement of late onset accompanying chronic uveitis and secondary glaucoma occurred in an 18-year-old man. Electron microscopy of the thin sclera from the unusually large eye (40x40x37 mm) disclosed collagen fibrils with mean widths that exceeded that of controls, but that were within the range of the fibril size typically present in the outer sclera. Thinner fibrils that normally occur particularly within the inner sclera were conspicuously absent. Morphologic observations on corneal and cutaneous collagen from the patient were unremarkable. No abnormality was detected on chemical analysis of cutaneous collagen. The abnormal morphologic pattern of the scleral collagen is interpreted as a probable arrest in scleral collagen synthesis.
Adolescent↗
Eye findings in patients with phenylketonuria.
Untreated phenylketonuria (PKU) is characterized by excretion of phenylpyruvic acid in the urine and mental retardation. Reported eye abnormalities include photophobia (probably due to the albinoid iris), cataracts, and corneal opacities. Eleven patients in an institutionalized population of approximately 1,000 mentally retarded patients had PKU. Cataracts were found in six patients. One patient had bilateral phthisis bulbi and one patient had monocular phthisis. No corneal opacities were found otherwise. All patients with cataracts were middle-aged or had a history of severe self-induced trauma or treatment with high dosages of thioridazine hydrochloride. Albinism is associated with anomalous chiasmal routing of optic fibers and abnormal, extraocular motility. The ocular hypopigmentation of patients with PKU did not have the same results; all seeing patients were orthophoric. Although eye abnormalities are common in PKU except for hypopigmentation, none can be considered a direct effect of the inborn error of metabolism.
Adult↗
Compensation of otolith function.
Horizontal eye displacement in total darkness during lateral tilting about the body axis was examined in 14 patients with unilateral loss of labyrinth function, including 8 cases of positional vertigo or dizziness and 6 symptom-free cases. The change in eye displacement following labyrinthectomy was also studied in 2 cases of labyrinthitis and one case of delayed hydrops. Seven out of 8 subjects suffering from positional vertigo or dizziness exhibited abnormal eye displacement on tilting to the affected side, while 5 out of 6 symptom-free subjects showed normal eye displacement. The correlation between anomalous eye displacement and the presence of subjective symptoms was statistically significant (p less than 0.05). Abnormal eye displacement following labyrinthectomy was readily noted within 2 weeks of surgery, but became almost undetectable 3 to 4 weeks postoperatively, in close accordance with a decrease in positional vertigo or dizziness. It was concluded that the measurement of eye displacement during lateral body tilt, although previously reported to be useful in the assessment of function, might also be employed to examine compensation for the loss of otolith function.
Adaptation, Physiological↗
Abnormal eye-head coordination in Parkinson's disease patients after administration of levodopa: a possible substrate of levodopa-induced dyskinesia.
Head oscillations in response to whole body oscillation of Parkinsonian patients before and after administration of levodopa were compared with those of normal subjects. Parkinsonian patients developed large increases in the amplitude of their head movements while fixating a stationary target after administration of levodopa. This increase was proportional to disease severity and was maximal in stage IV patients with levodopa induced dyskinesias. These findings indicate a fundamental yet reversible change in the strategy of eye-head coordination in Parkinsonian patients after administration of levodopa which may be due to release of normally inhibited visuo-vestibular reflexes.
Aged↗
Cytochrome C oxidase deficiency in two siblings with Leigh encephalomyelopathy.
Two siblings with cytochrome c oxidase deficiency are described. One of them died of subacute necrotizing encephalomyelopathy which was proven by autopsy. The other was also suspected of having Leigh encephalomyelopathy by the findings on brain CT scans. The former, a younger brother, was in good health until the age of 10 months when progressive dysphagia, muscular hypotonia and abnormal eye movements became apparent. Six months later he suddenly died due to respiratory insufficiency. The latter, an elder brother, started to show nystagmus, abnormal eye movements and ataxia at the age of 5 years. A deficiency of cytochrome c oxidase in the younger brother was demonstrated in autopsied liver and brain, while such a deficiency in the elder brother was shown in biopsied peripheral muscle tissue and in cultured skin fibroblasts. Both patients showed a marked heat lability of cytochrome c oxidase. These results suggest that the biochemical defect observed in the siblings is due to a genetic defect. This seems to be the first case of a generalized defect in cytochrome c oxidase.
Brain↗
Prenatal diagnosis of retinal detachment in Walker-Warburg syndrome.
Lissencephaly, hydrocephalus, and eye abnormalities characterize patients with the Walker-Warburg syndrome, an uncommon autosomal recessive condition. Encephaloceles occur in about 50% of patients. We describe the prenatal diagnosis of this condition based on the ultrasonographic findings of retinal detachment, hydrocephalus, and an encephalocele in a fetus not known to be at risk.
Abnormalities, Multiple↗
[Renal agenesis and the Fraser syndrome: 4 observations].
The authors report on 4 cases of Fraser syndrome in 2 Turkish families. Both families are consanguinous. In 3 cases there is a bilateral renal agenesis, a feature which is not usually regarded as a main one. Actually the survey of the literature reveals that renal anomalies are not infrequent in this syndrome, even though the cryptophtalmos would be lacking. A five year study of the malformations Registry of the Rhone-Alpes-Auvergne-Jura area shows that the association between renal agenesis and syndactyly (with or without the eye abnormalities) is quite rare. Such an association leads to the diagnosis of Fraser Syndrome even when cryptophtalmos is absent, and requires to look for minor ENT or ophthalmic symptoms by a careful post mortem examination.
Abnormalities, Multiple↗
Eye movement abnormalities in a family with cerebellar vermian atrophy.
We report the oculographic findings in a family whose members have a dominantly inherited, early onset, non-progressive syndrome which includes spontaneous upbeating nystagmus and mild cerebellar ataxia associated with cerebellar vermian atrophy seen on magnetic resonance scanning. Eye movements recorded with electro-oculography and a magnetic scleral search coil revealed severely impaired horizontal and vertical smooth pursuit, optokinetic nystagmus and visual-vestibular interaction, symmetrical horizontal but asymmetrical vertical vestibulo-ocular reflex, and normal saccades. The midline cerebellum appears to be essential for both horizontal and vertical visual tracking and visual modification of the vestibulo-ocular reflex in man.
Adult↗
[Creutzfeldt-Jakob disease associated with ocular dipping--a case report].
We presented a case of Creutzfeldt-Jakob disease (CJD) associated with ocular dipping (OD). A 65-year-old woman was hospitalized with two months history of progressive ataxia and mental deterioration. On admission, she was bed-ridden and stuporous with rigidity of the four limbs. Her both eyes were noted to deviate downward slowly from midpossition, taking 1 to 3 seconds to reach the nadir and rapidly returned to midpossition. It was felt that these abnormal eye movements are compatible with OD. Findings of EOG were compatible with that of typical OD. Electroencephalogram obtained a few months later revealed periodic synchronous discharge. Magnetic resonance imaging of the brain which had demonstrated mild cerebral atrophy in the beginning subsequently revealed full-brown cerebral atrophy. Hence, she was diagnosed of having CJD. There has been no report of CJD associated with OD. The OD was observed to last as long as 110 days. When the above described abnormal eye movements were noted, there was no signs indicative of brain stem dysfunction present. Therefore, we feel that the present case suggest that a diffuse cerebral dysfunction involving the cerebral cortex and basal ganglia may underlie in the development of OD.
Aged↗
Are eye movement abnormalities indicators of genetic vulnerability to schizophrenia?
UNLABELLED: Fifty to eighty-five percent of schizophrenic patients are impaired on ocular pursuit paradigms. However, results regarding the relatives are more discordant. The aim of this study was to investigate whether eye movement disorders could be a vulnerability marker of schizophrenia. METHOD: Twenty-one schizophrenic patients (DSM-IV), 31 first-degree relatives of those patients without schizophrenic spectrum disorders, and two groups of healthy controls matched by age and sex were included. Three oculomotor tasks (smooth pursuit, reflexive saccades and antisaccades) were used. RESULTS: Patients had a lower averaged gain (P= 0.035) during smooth pursuit than controls, made less correct visually guided saccades (P< 0.001) and more antisaccades errors (P= 0.002) than controls. In contrast, none of the comparison between the relatives and their controls was significant. CONCLUSION: Schizophrenic patients were impaired on smooth pursuit and antisaccade paradigms. None of these impairments was, however, observed in their first-degree relatives. Our results suggest that the eye movement parameters tested could not be considered as vulnerability markers for schizophrenia.
Adult↗
Radiographic abnormalities in eyes with retinoblastoma and other disorders.
The importance of radiographic examinations of pathological ocular material is stressed. Characteristic ocular radiodensities are observed with retinoblastomas, calcified cataracts, senile scleral plaques, intraocular ossification, and a variety of radiodense foreign bodies. Radiographs supplement other techniques for the documentation of ocular abnormalities and in certain instances may be the ideal method. They also permit the precise localisation of radiodense foreign bodies that need to be removed prior to the processing of tissue for microscopic examination. In certain situations valuable data can be obtained by x-ray examinations of embedded material. Retinoblastomas have an extremely high incidence of radiodensities with a characteristics appearance. This finding stresses the clinical importance of utilising and developing clinically applicable techniques for the detection of calcification in patients with suspected retinoblastomas.
Calcinosis↗