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PubMed1998

Open eyelids at birth, a new mutation in the musk shrew, Suncus murinus.

The mutation designated "open eyelids at birth" arose spontaneously in the BAN strain of the musk shrew (Suncus murinus). This is the first report on this kind of mutation in the shrew. Mating experiments suggested that the mutant character is controlled by an autosomal recessive gene with about 43% penetrance. The symbol oeb(open eyelids at birth) was proposed for the mutant gene. Affected shrews were fully viable and fertile. Phenotypically, the affected shrews were characterized by one or both eyelids open at birth. By 9 days of age, the exposed and dried eyeballs usually dropped off and became missing or sometimes looked microphthalmic. Except for the eye abnormality, the affected shrews showed no obvious external abnormalities. Light-microscopically, the affected shrews with missing eyes or microphthalmia-like eyes did not have complete eye structures, and only remnants of some eye tissue were observed. In the phenotypically normal oeb/oeb shrews with closed eyelids at birth, no histological eye abnormalities were noted. Thus, the mutant character observed may simply be caused by a failure of the eyelids to close.

Animals↗

PubMed1995

Visual fixation and smooth pursuit eye movement abnormalities in patients with schizophrenia and their relatives.

Increasing evidence suggests that smooth pursuit eye movement (SPEM) dysfunction may serve as an endophenotype or genetic marker of schizophrenia. The authors tested SPEM and visual fixation (VF) in 31 patients with schizophrenia, 33 of their first-degree relatives, and 24 patients with major depressive disorder. A high rate of abnormal VF was found in schizophrenic patients and their first-degree relatives, but not in affective disorder patients with or without psychotic features. Rate of VF abnormality distinguished schizophrenic patients from acutely depressed mood disorder patients; SPEM did not. VF and SPEM performance correlated only moderately, suggesting that the pathophysiologies of these two eye movement abnormalities may be partially independent. Implications for identifying a schizophrenia endophenotype are discussed.

Adult↗

PubMed1986

Evaluation of the visual system in multiple sclerosis. II. Colour vision.

A study of colour vision (CV) in 65 patients with multiple sclerosis (MS), (30 patients had had previous optic neuritis) and 51 controls was carried out with Ishihara's pseudoisochromatic plates (I-test), Farnsworth's panel D-15 test (F-test), and Lanthony's desaturated 15-hue test (L-test). CV defects were classified as to type and severity. Error scorings were calculated by Bowman's computerized method and our own simple proposal for scoring, which was found of equal value. Results were compared with pattern-reversal (black/white) visual evoked potentials (PR-VEP) (80% of eyes abnormal). The I-test (56% of eyes abnormal) was a more sensitive indicator of demyelination than the L-test (47%) and F-test (26%). In 14 eyes CV defects (10 blue-yellow, 4 red-green) were only revealed with the L-test. Abnormal CV, mostly blue-yellow defects, occurred in 16 patients (19 eyes) having normal VEP latencies; 29 patients were re-tested within one week. It is proposed that the performance of the I-test, which showed the highest reproducibility, could be improved by adding more cards, particularly blue-yellow, to the test.

Color Perception↗

PubMedDate not supplied

Ocular involvement in the fetal alcohol syndrome.

Maternal alcohol abuse during pregnancy causes malformations of the eyes with serious consequences to the vision of the affected children. A high percentage (up to 90%) of children suffering from the fetal alcohol syndrome have eye abnormalities, including malformation in the outer eye region, disorders of motility, and defects of different intraocular structures. Two kinds of malformations stand out as most typical--hypoplasia of the optic nervehead (up to 48%) and increased tortuosity of the retinal vessels, especially of the arteries (up to 49%). Visual acuity is often moderately or severely reduced. Considering the developmental timing of different tissues of the eye, one can presume that there is a risk for deleterious effects of alcohol on eye structures at any point of time from early gestation until development is completed.

Adolescent↗

PubMedDate not supplied

Electrophysiological and eye-movement abnormalities in children with the Bardet-Biedl syndrome.

We investigated 17 patients with clinical features of Bardet-Biedl syndrome by electroretinogram (ERG), visual-evoked potentials (VEP), and electro-oculographic (EOG) eye movement assessment. The ERGs were grossly abnormal in 16 cases. Pattern VEPs were generally well preserved, but showed a tendency to increase in latency and decrease in amplitude with age. These results confirm other reports that the retinopathy appears to be a progressive rod-cone dystrophy initially affecting mainly extramacular areas but involving the macula at later stages. Seven of 11 patients showed abnormalities of either optokinetic nystagmus, vestibulo-ocular reflex, or both. These eye-movement abnormalities have not been reported previously, and are further evidence of central nervous system involvement in this syndrome.

Adolescent↗

PubMed1987

A syndrome with painful lipomas, familial dysarthria, abnormal eye-movements and clumsiness.

A syndrome of dysarthria, clumsiness and abnormal ocular movements are described in a man and his 3 children. His father, who died when our patient was born, also had the same speech abnormality. Our patient also had multiple painful lipomas suggesting a probable diagnosis of adipositas dolorosa Dercum. Although he looked muscular he complained of muscular weakness and fatigue. Oral treatment with a local anesthetic, mexiletin, inhibited the pain in the lipomas. Analysis of the speech disorder in our patient and his children revealed disturbances in the coordination of jaws, larynx and tongue with a poor control of pitch and volume and impaired intelligibility. The poor fine coordination of hands, clumsiness when walking, dysarthria and disturbance of eye-movements could be due to a familial malformation in the pons or cerebellum. Computer tomography and X-ray of head were normal but the grooves on the surface of the cerebellum were more marked than usual.

Adult↗

PubMed1984

Serial pattern shift visual evoked potentials in multiple sclerosis.

Forty patients with MS initially tested in our laboratory were recalled for repeat PSVEP testing approximately two years later. Twelve normal controls were tested in a similar manner approximately two years apart. The PSVEP positive peak latency changed little in the 24 control eyes (mean 1.4 msec, range 0-6) over the study interval. Most MS patient eyes also showed little change in PSVEP latency over the two year study interval. Fifty-eight eyes changed 8 msec or less. Eighteen eyes showed a PSVEP latency increase of 10 msec or more. Six of these eighteen eyes were symptomatic (attack of clinical optic neuritis), twelve asymptomatic during the study interval. Symptomatic eyes tended to have greater latency increases during the study interval than asymptomatic eyes. Significant latency increases occurred with equal frequency in previously normal eyes (normal PSVEP on first test) and abnormal eyes (abnormal PSVEP on first test or previous clinical optic neuritis). Significant latency increases occurred with greater frequency in patients with a mixed or progressive course than in patients with a remitting-relapsing course, and in patients with greater disability rating (Kurtzke 3-7) than in patients with lower disability ratings (Kurtzke 0-2). Bilateral latency increases occurred during the study interval more frequently than expected by chance. Patient age and disease duration did not significantly influence the number of PSVEP latency increases seen during the study interval. Four eyes decreased in latency by 10 msec or more during the study interval. All these eyes had had an episode of acute optic neuritis which began in the 5 weeks immediately preceding the 1st PSVEP test.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

PubMed2001

Dach1 mutant mice bear no gross abnormalities in eye, limb, and brain development and exhibit postnatal lethality.

Drosophila dachshund is necessary and sufficient for compound eye development and is required for normal leg and brain development. A mouse homologue of dachshund, Dach1, is expressed in the developing retina and limbs, suggesting functional conservation of this gene. We have generated a loss-of-function mutation in Dach1 that results in the abrogation of the wild-type RNA and protein expression pattern in embryos. Homozygous mutants survive to birth but exhibit postnatal lethality associated with a failure to suckle, cyanosis, and respiratory distress. The heart, lungs, kidneys, liver, and skeleton were examined to identify factors involved in postnatal lethality, but these organs appeared to be normal. In addition, blood chemistry tests failed to reveal differences that might explain the lethal phenotype. Gross examination and histological analyses of newborn eyes, limbs, and brains revealed no detectable abnormalities. Since Dach1 mutants die shortly after birth, it remains possible that Dach1 is required for postnatal development of these structures. Alternatively, an additional Dach homologue may functionally compensate for Dach1 loss of function.

Alleles↗

PubMed1984

Ophthalmologic findings in acquired immune deficiency syndrome (AIDS).

Forty-one homosexually active men had ophthalmologic and immunologic evaluations. Four of eight with acquired immune deficiency syndrome (AIDS) had abnormal ocular findings that included cotton-wool spots, retinal hemorrhages, cytomegalovirus, retinitis and conjunctivitis due to cytomegalovirus, and keratoconjunctivitis sicca. The other four patients with AIDS and 33 homosexual male controls had normal ocular examinations. Patients with AIDS and abnormal eye findings had a notably lower total leukocyte count, absolute lymphocyte count, percentage T-helper lymphocytes, helper-suppressor lymphocyte ratio, hematocrit level, and platelet count than patients with AIDS and normal results on eye examination or controls. All patients with AIDS and abnormal eye examination results died; the four other patients with AIDS and normal eye findings remain alive. These observations suggest that ophthalmologic abnormalities are common in patients with AIDS, are associated with severe immunoregulatory abnormalities, and carry a poor prognosis.

Acquired Immunodeficiency Syndrome↗

PubMed1996

Early expression of smooth-pursuit eye movement abnormalities in children of schizophrenic parents.

OBJECTIVE: Disordered smooth-pursuit eye movements (SPEM) and, specifically, small anticipatory saccades that disrupt SPEM have been hypothesized to be a marker of genetic vulnerability to schizophrenia. This study compares SPEM in children of schizophrenic parents with normally developing control children to assess whether SPEM abnormalities are also present in a subset of at-risk children. METHOD: With infrared oculography, SPEM was examined in 13 children of schizophrenic parents and 19 normally developing controls (aged 6 to 15 years). Measures of smooth-pursuit gain and root mean square error were used in addition to more specific measures of catch-up saccades and anticipatory saccades. RESULTS: Children of schizophrenic parents differed from normally developing controls on gain and root mean square error, but not on catch-up saccades. Small anticipatory saccades were significantly more frequent in the at-risk group. The percentage of total eye movements due to anticipatory saccades identified 54% of the at-risk group (compared with none of the control group) as performing more than two standard deviations above (worse than) the control mean. CONCLUSIONS: The presence of increased anticipatory saccades is evidence for an oculomotor dysfunction that may be a phenotype of the genetic risk for schizophrenia, expressed years prior to the possible development of clinical illness.

Adolescent↗

PubMed2000

The effects of antipsychotic medication on saccadic eye movement abnormalities in Huntington's disease.

1. The study was a prospective open trial done to determine the effect of antipsychotic medication on saccadic eye movements in patients with Huntington's disease (HD). The authors tested 16 outpatients with HD, 8 of whom were drug free and 8 of whom were on antipsychotic medication. We also tested 24 healthy control subjects. 2. The antisaccade task was used to investigate the voluntary control of saccadic eye movements. Antisaccade latencies and error rates were used as outcome measures. Both HD patient groups showed significantly more antisaccade abnormalities than controls and the rate of abnormalities was very similar between the drug-free and medicated patient groups. 3. The results suggest that these abnormalities are related to underlying neuropathology rather than effects of medication. Either specific dysfunction of the dorsolateral prefrontal cortex or of the subcortical circuit connecting this cortical area to the superior colliculus via the striatum are likely to be responsible for the generation of such antisaccade eye movement abnormalities.

Adult↗

PubMed1998

Eye movement abnormalities in anorexia nervosa.

The aim of the present study is to investigate smooth pursuit eye movement and saccadic performance in anorexia nervosa during a restored weight period and to determine if functional links can be made between eye movement performance and clinical features. SPEM parameters were recorded for 28 female anorectic out-patients (DSM IV), who had a body weight loss of up to 20% of ideal body weight. Twenty-eight comparison subjects were also tested. Clinically, each patient was assessed using the Eating Disorder Inventory (EDI), the Yale-Brown Obsessive-Compulsive Scale (Y-BOCS), the Structured Interview for Personality Disorders (SCID II), the Symptom Checklist-90-Revised (SCL-90-R) and the Hamilton Scale for Depression (HRSD). The anorectic patients performed slightly worse than the comparison subjects on a number of SPEM measures. No relationship was found between SPEM impairment and a global severity index of psychopathology (SCL 90-R GSI) or depressive symptoms. Moreover, OCD symptoms and scores on some EDI scales (such as perfectionism) appear related to the severity of the eye movement alterations. The evidence of SPEM abnormalities in a subgroup of anorectic patients during the remitted state and the relationship of the abnormalities to obsessive-compulsive symptoms are discussed. Results are in agreement with the hypothesis regarding the persistence of neurophysiological as well as psychopathological traits of disorder in anorectic patients.

Adult↗

PubMed2002

Pax6 heterozygous eyes show defects in chamber angle differentiation that are associated with a wide spectrum of other anterior eye segment abnormalities.

The development of the chamber angle was studied in the eyes of heterozygous Pax6(lacZ/+) mutant mice (Nature 387 (1997) 406). Mutations in PAX6 cause aniridia, a condition that is frequently associated with glaucoma, a blinding disease that may be associated with chamber angle defects. Mesenchymal cells were seen in the chamber angle at P1-P5. In wild-type mice, these cells differentiated into typical trabecular meshwork (TM) cells next to Schlemm's canal. In Pax6(lacZ/+) mice, TM cells remained undifferentiated and Schlemm's canal was absent. From P1 to P4, staining for beta-galactosidase and immunoreactivity for Pax6 were observed in chamber angle mesenchyme, but were absent later. Cultured murine TM cells expressed Pax6. The defects in chamber angle and TM differentiation were associated with a wide spectrum of other anterior eye defects, which included various degrees of iris hypoplasia and corneal haze, isolated iridocorneal adhesions and atypical coloboma, and a vascularized cornea in all adult animals. A third of the animals showed Peters' anomaly including corneal opacity and iridocorneal adhesions. The separation of the lens from the cornea was incomplete, and epithelial layers of lens and cornea were continuous. Pax6 activity is directly required for differentiation of the chamber angle. Variations in phenotype of Pax6(lacZ/+) mice appear not to involve direct dominant-negative or dose-dependent effects.

Animals↗

PubMed1986

Horizontal and vertical saccadic eye movement abnormalities in Huntington's chorea.

With a newly developed infrared reflection technique, voluntary saccadic eye movements (VOLS), visually evoked saccades (VES) and unsuppressed visually evoked reflex saccades (USVERS) were measured in 11 patients with Huntington's chorea. Abnormalities, including latency increase, peak velocity decrease and undershoot dysmetria with multiple step saccades were found in all types of saccadic eye movements. Peak velocity decrease and undershoot dysmetria can be explained by dysfunction of the brainstem reticular formation in Huntington's chorea. USVERS and square wave jerks occurred abnormally frequently and showed direction-dependent differences. Both were more frequent in horizontal than in vertical direction. Frequency of USVERS and square-wave jerks tended to be correlated. These findings point to disinhibited superior colliculi as a possible common supranuclear origin of USVERS and square-wave jerks in Huntington's chorea.

Adult↗

PubMed1996

Further delineation of the acro-renal-ocular syndrome.

A triad of acral, renal, and ocular abnormalities was reported previously in four families. We report on a fifth family, in which a mother, one of her four sons and one of her two daughters are affected. Major findings in the acro-renal-ocular syndrome are upper limb abnormalities, mainly thumb hypoplasia, eye abnormalities such as coloboma and Duane anomaly and renal migration defects. A close embryological-temporal relationship between the traits of this entity suggest a common monogenic cause. The pattern of inheritance is probably autosomal dominant. Because of a wide variability of clinical manifestations, recognition of the syndrome in individual cases may be difficult.

Adult↗

PubMed1994

Smooth pursuit eye movement abnormality in severe major depression: effects of ECT and clinical recovery.

Smooth pursuit eye movement (SPEM) dysfunction is a putative genetic marker for schizophrenia, but it has also been described in major depression. The authors longitudinally evaluated effects of clinical state on SPEM quality in patients with depression. Prior to ECT, SPEM abnormality characterized 42% of 24 severely depressed patients, 60% of 30 schizophrenia patients, and 5% of 20 control subjects. SPEM was significantly correlated to Hamilton Rating Scale for Depression scores (r = 0.49, P = 0.02) in the depressed patients. Although SPEM was transiently disrupted by an acute ECT treatment, it improved during the treatment course. This improvement of SPEM quality with clinical recovery suggests that SPEM abnormality may be a state marker in severe major depression, in contrast to its invariable trait nature in schizophrenia.

Adult↗

PubMed2000

Antisaccade eye movement abnormalities in Tourette syndrome: evidence for cortico-striatal network dysfunction?

Saccadic eye movements are rapid eye movements which act to redirect the eyes from one object of interest to another. Accurately and objectively measurable, their underlying neuroanatomical mechanisms have been extensively studied. The antisaccade task allows the study of the frontocortico-striatal network involved in the voluntary control of saccadic eye movements. In this task, the subject is instructed to inhibit a reflex eye movement towards a peripheral target light and, instead, to generate a movement in the equal and opposite direction. An error occurs when the subject fails to suppress reflexive saccades towards the target. Significantly high error rates and increased latencies in the antisaccade task have been reported in disorders associated with dysfunction of the frontocortico-striatal network. Increased saccadic eye movement latencies and error rates have been reported in Tourette syndrome patients (n = 4) who were receiving antipsychotic medication. To investigate this further, we tested the antisaccade task on six male Tourette syndrome patients. The results were compared with 18 age- and sex-matched mentally and physically healthy, medication/alcohol-free controls. Antisaccade latencies were (mean +/- SD; ms) 751.2+/-186.7 for the Tourette syndrome group and 417+/-75.3 for controls, and error rates were 59+/-14.3 for the Tourette syndrome group and 11.9+/-6.4 for controls, respectively. These significant results may further support dysfunction of the frontocortico-striatal network in Tourette syndrome.

Adolescent↗

PubMed1998

Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I.

We compared horizontal eye movements (visually guided saccades, antisaccades, and smooth pursuit) in control subjects (n = 14) and patients with three forms of autosomal dominant cerebellar ataxias type I: spinocerebellar ataxias 1 and 2 (SCA1, n = 11; SCA2, n = 10) and SCA3/Machado-Joseph disease (MJD) (n = 16). In SCA1, saccade amplitude was significantly increased, resulting in hypermetria. The smooth pursuit gain was decreased. In SCA2, saccade velocity was markedly decreased. The percentage of errors in antisaccades was greatly increased and was significantly correlated with age at disease onset. In addition, a correlation between smooth pursuit gain and the number of trinucleotide repeats was found. In SCA3, gaze-evoked nystagmus was often present as was saccade hypometria and smooth pursuit gain was markedly decreased. Three major criteria, saccade amplitude, saccade velocity, and presence of gaze-evoked nystagmus, permitted the correct assignment of 90% of the SCA1, 90% of the SCA2, and 93% of the patients with SCA3 to their genetically confirmed patient group and, therefore, may help orient diagnoses of SCA1, SCA2, and SCA3 at early clinical stages of the diseases.

Adolescent↗