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Results for “Eye Abnormalities”

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At least 163 records · Page 9Linked to original sources

PubMed1999

[Eye movement abnormalities as a sign for the diagnosis in Niemann-Pick disease type C].

BACKGROUND: Eye movement abnormalities in familial mental retardation syndrome should lead to the suspicion of a storage disorder, including Niemann Pick disease type C, Gaucher's disease, abetalipoproteinemia and Wilson's disease. The eye movement abnormalities in our two patients were suggestive of Niemann Pick disease type C, characterized by initial loss of voluntary vertical eye movements and subsequent loss of horizontal eye movements, with preservation of the vestibulo-ocular response. The characteristics of eye movements in storage disorders are different. In Gaucher's disease a progressive horizontal gaze palsy, in abetalipoproteinemia a particular type of internuclear ophthalmoplegia with nystagmus of the adducting eye and in Wilson's disease slowing of saccades may be observed. PATIENTS: We evaluated two mentally retarded sisters with unclear diagnosis at the age of 34 and 27 years. At the age of 24 and 21 a vertical gaze palsy led to the diagnosis of Parinaud syndrome. RESULTS: At the time of our examination both sisters were unable to perform voluntary horizontal or vertical saccades or pursuit eye movements. The vestibulo-ocular reflex was present in all directions. Optokinetic nystagmus and convergence were absent. This clinical picture led us to a suspicion of Niemann-Pick disease type C, confirmed by the presence of sea-blue histiocytes in the bone marrow biopsy. CONCLUSION: These cases demonstrate that the pattern of eye movement disorders in some syndromes associated with mental retardation can give important clues in the determination of the diagnosis.

Adult↗

PubMed1985

Eye movement abnormalities in rod monochromatism and blue-cone monochromatism.

Eye movements were recorded with electro-oculography in seven patients with rod monochromatism (RM) and five with blue-cone monochromatism (BCM). The continuous horizontal nystagmus was similar in both groups. However, three patients with BCM demonstrated an intermittent, high-frequency nystagmus, in addition to the continuous nystagmus. The most striking differences between the groups were present during monocular smooth pursuit and optokinetic tracking. Patients with RM demonstrated better tracking when targets moved in the temporal-to-nasal (T-N) direction in the visual field of the viewing eye, than when targets moved in the nasal-to-temporal (N-T) direction. The velocity of optokinetic nystagmus (OKN) increased gradually over several seconds during T-N target movement. Patients with BCM did not show a directional asymmetry or a slow build-up of OKN during monocular tracking. Differences in eye movement abnormalities can be useful in differentiating these two forms of congenital color blindness from other forms of congenital nystagmus and from each other.

Adolescent↗

PubMed1997

Transscleral diode laser cyclophotocoagulation on autopsy eyes with abnormally thinned sclera.

BACKGROUND AND OBJECTIVE: To determine, using autopsy eyes, whether diode laser energy adjustments are indicated in patients with thin sclera. MATERIALS AND METHODS: In the laboratory, the superior 180 degrees of sclera at the limbus was dissected to the level of barely visible anterior uvea and the opposite 180 degrees of sclera served as the control in three human cadaver eyes. A contact G-probe was placed at the limbus, and settings of a diode laser were increased in increments from 1.0 to 9.0 J at 4 burns per setting in each location. RESULTS: On gross examination, circular hypopigmented lesions were seen in the ciliary body (CB) beginning at 3.0 J in thin sclera and at 5.0 J in normal sclera. On light microscopic examination of thin scleral sections, CB damage began at 2.9 J and CB/ciliary body epithelium (CBE) damage occurred beginning at 3.5 J. In normal sclera, minimal CB/CBE changes occurred at 6.0 to 7.5 J. No scleral damage was visible in either the experimental or the control groups. CONCLUSION: Cycloablation energy adjustments are indicated on eyes with abnormally thin sclera to achieve similar histologic end points using the diode laser.

Basement Membrane↗

PubMed2004

Expression of FoxE4 and Rx visualizes the timing and dynamics of critical processes taking place during initial stages of vertebrate eye development.

Several transcription factors have a critical function during initial stages of vertebrate eye formation. In this paper, we discuss the role of the Rx subfamily of homeobox-containing genes in retinal development, and the role of the Foxe3 and FoxE4 subfamily of forkhead box-containing genes in lens development. Rx genes are expressed in the initial stages of retinal development and they play a critical role in eye formation. Elimination of Rx function in mice results in lack of eye formation. Abnormal eye development observed in the mouse mutation eyeless (ey1), the medakatemperature-sensitive mutation eyeless (el), and the zebrafish mutation chokh are caused by abnormal regulation or function of Rx genes. In humans, a mutation in Rx leads to anophthalmia. In contrast, Foxe3 and FoxE4 genes are expressed in the lens and they play an essential role in its formation. Mutations in the Foxe3 gene are the cause of the mouse mutation dysgenetic lens (dyl) and in humans, mutation in FOXE3 leads to anterior segment dysgenesis and cataracts. Since Rx and FoxE4 are expressed in the earliest stages of retina and lens development, their expression visualizes the timing and dynamics of the crucial processes that comprise eye formation. In this paper we present a model of eye development based on the expression pattern of these two genes.

Animals↗

PubMed1999

Functional visual loss in amblyopia and the effect of occlusion therapy.

PURPOSE: The aim of this study was to define the nature of functional visual loss in amblyopia and to identify those subjects whose amblyopia is chiefly due to one or more of the following deficits: abnormal contour interaction, abnormal eye movements, abnormal contrast perception, or positional uncertainty. METHODS: Fifty amblyopic children with a mean age of 5.6+/-1.3 years were referred from diverse sources. In addition to routine orthoptic and optometric evaluation the principal visual deficits in the amblyopic eye of each subject were identified using the following measures of visual acuity: high contrast linear, single optotype, repeat letter and low contrast linear, plus Vernier and displacement thresholds. These measures were repeated as the children underwent a prescribed occlusion therapy regime, after parental consent. RESULTS: All amblyopic subjects demonstrated a functional loss in each of the tests used, and occlusion therapy appeared to improve all aspects of the amblyopia. High contrast visual acuity was not always the primary deficit in visual function, and when amblyopic subjects were divided according to their primary visual loss, this visual function was found to show the greatest improvement with treatment. CONCLUSIONS: These results suggest that to successfully identify the primary visual deficit and monitor the success of occlusion therapy it is necessary to assess other aspects of visual function in amblyopia.

Amblyopia↗

PubMed1991

Ocular manifestations in fetal alcohol syndrome.

Eight children with the fetal alcohol syndrome are described with ocular anomalies. They all had a strong history of maternal alcohol abuse throughout pregnancy, especially in the first trimester. All the children had eye abnormalities. These included external eye lesions, Peters' anomaly, lens opacification, ocular motility disorders, and optic nerve hypoplasia.

Child↗

PubMed1991

The ocular abnormalities of blue diaper syndrome.

We describe the ocular abnormalities seen in a new metabolic disease which is deficient in the transport of tryptophan. Besides the symptoms and signs reported previously, we have found microconea, hypoplasia of the optic disc and abnormal eye movements in our case--a ten-year-old-boy. The sibling involvement and consaguineous marriage of the parents suggest a recessive heredity.

Amino Acid Metabolism, Inborn Errors↗

PubMed1985

Eye-movement abnormalities in ophthalmoplegia, ataxia, and areflexia (Fisher's syndrome).

Ophthalmoplegia, ataxia, and areflexia are present in a distinctive syndrome called Fisher's syndrome. Eye-movement recordings were used to analyze ophthalmoplegia and other eye-movement abnormalities in three patients. Disorders of supranuclear ocular motor pathways (palsy of upward gaze and internuclear ophthalmoplegia) and peripheral cranial nerve palsies could account for the ophthalmoplegia. In one patient, computed tomography demonstrated a lucency in the midbrain that could be correlated with palsy of upward gaze and bilateral internuclear ophthalmoplegia. Eye-movement abnormalities characteristic of lesions of the midline structures of the cerebellum were documented in two patients. A review of reported cases of Fisher's syndrome and brain-stem encephalitis suggested that these syndromes comprise a spectrum of a reversible, parainfectious process affecting the peripheral cranial nerves and CNS.

Adolescent↗

PubMed1983

Analysis of characteristic eye movement abnormalities in internuclear ophthalmoplegia.

Quantitative electro-oculographic recording techniques were used to analyze four characteristic eye movement abnormalities in 21 patients with internuclear ophthalmoplegia (INO). The frequency of each of the abnormalities was determined to suggest a pattern that is the most sensitive in detecting the syndrome of INO. Slowing of the adducting saccade was the most frequently found abnormality, being present in all patients. The other characteristic eye movement disorders were found less frequently: dissociated nystagmus at 30 degrees of eccentric gaze, dysmetria of the abducting eye, and limitation of adduction. The most sensitive pattern for detecting an INO seems to be slowing of the adducting saccade combined with either dissociated nystagmus or dysmetria of the abducting eye. Limitation of adduction was seen much less frequently.

Adult↗

PubMed2005

Pathological aggression in "fierce" mice corrected by human nuclear receptor 2E1.

"Fierce" mice, homozygous for the deletion of nuclear receptor 2E1 (NR2E1), show abnormal brain-eye development and pathological aggression. To evaluate functional equivalency between mouse and human NR2E1, we generated mice transgenic for a genomic clone spanning the human NR2E1 locus and bred these animals to fierce mice deleted for the corresponding mouse gene. In fierce mutants carrying human NR2E1, structural brain defects were eliminated and eye abnormalities ameliorated. Excitingly, behavior in these "rescue" mice was indistinguishable from controls. Because no artificial promoter was used to drive transgene expression, promoter and regulatory elements within the human NR2E1 clone are functional in mouse. Normal behavior in rescue animals suggests that mechanisms underlying the behavioral abnormalities in fierce mice may also be conserved in humans. Our data support the hypothesis that variation at NR2E1 may contribute to human behavioral disorders. Use of this rescue paradigm with other genes will permit the direct evaluation of human genes hypothesized to play a causal role in psychiatric disease but for which evidence is lacking or equivocal.

Aggression↗

PubMed1996

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly, mental retardation (MCA/MR) syndrome associated with deletion of chromosome 17 band p11.2. As part of a multi-disciplinary clinical, cytogenetic, and molecular approach to SMS, detailed clinical studies including radiographic, neurologic, developmental, ophthalmologic, otolaryngologic, and audiologic evaluations were performed on 27 SMS patients. Significant findings include otolaryngologic abnormalities in 94%, eye abnormalities in 85%, sleep abnormalities (especially reduced REM sleep) in 75%, hearing impairment in 68% (approximately 65% conductive and 35% sensorineural), scoliosis in 65%, brain abnormalities (predominantly ventriculomegaly) in 52%, cardiac abnormalities in at least 37%, renal anomalies (especially duplication of the collecting system) in 35%, low thyroxine levels in 29%, low immunoglobulin levels in 23%, and forearm abnormalities in 16%. The measured IQ ranged between 20-78, most patients falling in the moderate range of mental retardation at 40-54, although several patients scored in the mild or borderline range. The frequency of these many abnormalities in SMS suggests that patients should be evaluated thoroughly for associated complications both at the time of diagnosis and at least annually thereafter.

Abnormalities, Multiple↗

PubMed2005

Stabilization of anterior chamber depth during phacoemulsification cataract surgery in vitrectomized eyes.

Abnormal fluctuations in anterior chamber (AC) depth including deepening and mydriasis with paradoxical shallowing and miosis have been described during phacoemulsification cataract surgery in previously vitrectomized eyes. Contributory factors include zonular laxity and reduction of vitreous volume. This report describes a technique to stabilize AC depth and allow safer sculpting and removal of lens matter.

Anterior Chamber↗

PubMed1989

[Inverse ocular bobbing associated with cerebral embolism and diabetes insipidus--a case report].

Inverse ocular bobbing (IOB) is an uncommon abnormal eye movement. Its characteristics are slow downward eye movement with rapid upward return, a nadir at the extreme of downgaze position and horizontal roving eye movement. We present a case of IOB associated with cerebral embolism and diabetes insipidus. A 69 year-old right-handed woman was admitted because of a consciousness disturbance. She had been well until November 10, 1983, when she was found dysarthric and left hemiplegic. On admission, she was stuporous. There were conjugate deviation to the right, central left facial and hypoglossal palsy, left hemiplegia with spasticity, left hyperreflexia with positive pathologic reflex and anosognosia. A CT scan performed on November 11 showed extensive hypodense area in the region supplied by the right middle cerebral artery. A right carotid angiography revealed multiple occlusions in the top of the right internal carotid artery with poor collateral circulation. After admission, the level of consciousness gradually deteriorated and became comatose on November 18, when the following abnormal eye movements were observed. Following spontaneous horizontal roving eye movement, both eyes deviated downward slowly from midposition, taking 1 to 2 seconds to reach the nadir. The eyes then remained in the position for 1 to 15 seconds, followed by a rapid return to the midposition. These abnormal eye movements are compatible with inverse ocular bobbing (IOB) described by Knobler. Electronystagmography detected typical IOB and spontaneous upward nystagmus. There was no evidence of hypoxia when these abnormal eye movements were present.(ABSTRACT TRUNCATED AT 250 WORDS)

Aged↗

PubMedDate not supplied

Keratolenticular dysgenesis (Peters' anomaly) as a result of acute embryonic insult during gastrulation.

Keratolenticular dysgenesis (Peters' anomaly) was induced in mice by exposure to the human teratogens, ethanol or 13-cis retinoic acid (isotretinoin, Accutane). Acute teratogen exposure on the seventh day of gestation (corresponding to the third week of human gestation) resulted in an eye malformation incidence of 46% to 100% in day 14 fetuses. Of the abnormal eyes, 10% to 29% demonstrated failure of detachment of the lens from the surface ectoderm. Delayed lens detachment was seen as anterior lenticonus in 33% to 35% of the abnormal eyes. Abnormal lens detachment appeared to result in mechanical interference with neural crest migration to form the corneal stroma and endothelium, and iris stroma. This secondary effect on neural crest derivatives is exhibited in the adult animals as corneal opacities associated with defects in Descemet's membrane and endothelium, and anterior polar cataracts.

Animals↗

PubMedDate not supplied

Electro-oculographic abnormality in eyes with uveal melanoma.

PURPOSE: To seek out correlations between preoperative electro-oculogram (EOG) recordings with different types of uveal melanomas, after surgery. METHODS: We analysed the EOG recordings of 120 patients with uveal melanomas, histologically verified, 100 in the choroid and 20 in the iris and ciliary body. The EOG data were correlated with the site, size and histological type of the tumor. RESULTS: In 100 eyes with choroidal melanoma the Arden Index (AI) was less than in fellow eyes (mean 126.6, SD +/- 23.8 and 202.9, SD +/- 47.0; p=0.01). The EOG values were not different with respect to the histological type, site and size of tumor. In cases with iris and ciliary body melanomas the AI were not significantly different from the fellow eyes (mean 180.6, SD +/- 23.6 and 203.2, SD +/- 38.7; p=0.07). CONCLUSIONS: Since the EOG is abnormal in eyes with choroidal melanoma, it can be considered a powerful auxiliary for diagnosing these tumors.

Adult↗

PubMed1980

Presumably Azorean disease in a presumably non-Portuguese family.

Autosomal dominant motor system degeneration (ADMSD) is a hereditary ataxia that has been reported previously only in Portuguese families from the Azores Islands. Cerebellar ataxia, pyramidal and extrapyramidal signs, amyotrophy, dystonia, abnormal eye movements, and prominent eyes are variably present. Four members of a family had cerebellar ataxia, dystonic posturing, a variety of abnormal eye movements, and prominent eyes resulting from lid retraction. Eight other family members had a similar disease. The combination of cerebellar ataxia, dystonia, abnormal eye movements, and prominent eyes has been reported only in ADMSD. The family reported here may be the first example of ADMSD in a non-Portuguese family.

Adult↗

PubMed1989

A case of Wallenberg's syndrome: ocular motor abnormalities.

Eye movements were measured objectively in a patient with Wallenberg's syndrome during the course of his 2-year recovery period. The patient exhibited a change in fixational and reading eye movement patterns consistent with concurrent reduction in symptoms. The results demonstrate the importance of clinical eye movement recordings in such patients to understand more fully the relationship between the visually related symptoms and the objective oculomotor correlates.

Eye Movements↗

PubMed1995

Lens aplasia: a new mutation producing lens abnormality in the mouse.

One female with bilaterally closed eyelids was observed in a breeding colony of BALB/c mice in our laboratories. This eye abnormality was considered to be heritable because offspring with the same abnormality were produced from the mating of this female with a normal male littermate. From the results of various crosses made to determine the mode of inheritance, this abnormality is considered to be attributable to a mutation on a single autosomal recessive gene. Histologic observations of 30-day-old and adult mutant mice revealed various eye abnormalities such as microphthalmia, aphakia, absence of the anterior chamber, dystrophy of the cornea and vitreous body, and retinal disorganization. Observations of fetal eye development from days 9 to 17 of gestation, indicated that the eye developed normally until the start of invagination of the lens placode at day 10. However, formation of the lens vesicle progressed abnormally to form a mass of cells without a cavity at day 11; this mass was reduced in size at day 12 and had vanished by day 13 or 14 of gestation. Also abnormal development was observed in the cornea, vitreous body, or retina after day 12 of gestation. Complementary mating between mice homozygous for this mutation and homozygous aphakia mice, which have similar modes of inheritance and lens development, produced no F1 newborns with abnormal eyes. From these results, the present mutation is considered to be a new one. Because lens development in this mutant is disrupted at an early stage and the anlage vanishes soon after, we propose the name lens aplasia, with the suggested symbol "lap."(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗