PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “Eye Abnormalities”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 253 records · Page 14Linked to original sources
PubMedDate not supplied

[Infantile bilateral necrosis of the striatum of corpus: report of four cases].

The designation of "Infantile Bilateral Striatal Necrosis" (IBSN) was first given by Friede in 1975. However, this unusual condition was first described by Paterson and Carmichael in 1924. The disease is rare with uncertain etiology. The clinical picture includes choreoathetosis, abnormal eye movements, seizures and mental dullness. These circumstances often follow symptoms such as fever, vomiting and impaired consciousness. The final diagnosis is confirmed by pathological examination, which reveals symmetrical degeneration of bilateral basal ganglia. With present technology IBSN can be well demonstrated in the brain Ct scans or MRI scans nowadays. This article reports four cases with clinical manifestations which had appeared before the age of one year. Three cases had prodromal upper respiratory tract infection symptoms with vomiting, while seizure and impaired consciousness ensued. One case had several bouts of pneumonitis followed by seizures, impaired consciousness and abnormal eye movement. Brain sonogram of one of these cases showed hyper-echoic basal ganglia, while CT scans or MRI scans revealed symmetrical hypodensity or signal change over bilateral basal ganglia, respectively. All of these led to a bedridden life. These four cases are reported based on their clinical presentations and brain imaging findings, in spite of the absence of pathological confirmation. Some of the literature are also reviewed. To sum up, IBSN should be kept in mind in the differential diagnosis of symmetrical bilateral basal ganglia lesion after the exclusion of other disorders such as neurometabolic disorders, central nervous system infection, carbon monoxide intoxication, hypoxic-ischemic encephalopathy, tumors and cerebrovascular disorders etc.

Corpus Striatum↗
PubMed2001

Routine neonatal examination: effectiveness of trainee paediatrician compared with advanced neonatal nurse practitioner.

OBJECTIVE: To compare the effectiveness of routine neonatal examination performed by senior house officers (SHOs) and advanced neonatal nurse practitioners (ANNPs). DESIGN: A prospective study of all infants referred to specialist orthopaedic, ophthalmology, and cardiology clinics. A standardised proforma was used to record details of the professional performing the neonatal check, any abnormalities discovered, source of ultimate referral to the specialist clinic, and specialist findings. RESULTS: 527 eligible infants were recruited. For hip abnormalities, ANNPs displayed greater sensitivity than SHOs (96% v 74%; p < 0.05). Similarly for eye abnormalities, ANNPs were more sensitive (100% v 33%; p < 0.05). There were no significant differences between ANNPs and SHOs in terms of positive predictive values or effectiveness of detecting cardiac abnormalities. There was no difference in underlying incidence of abnormalities between the two hospitals. CONCLUSION: ANNPs are significantly more effective in detecting abnormalities during the neonatal check. This has implications both for future workforce planning and current methods of medical training.

Clinical Competence↗
PubMed1987

Abnormal rapid eye movement latencies in schizophrenia.

Several previous studies have observed short rapid eye movement (REM) latencies in schizophrenic patients without major affective disorder. This study was designed to meet several of the criticisms of those previous studies. Using Research Diagnostic Criteria, we compared the sleep patterns of schizophrenic patients with those of normal controls and patients with major depressive disorder and schizoaffective disorder. All patients were medication free, and REM latency was explicitly defined using both strict and lenient criteria. Chronically ill paranoid or undifferentiated schizophrenics could not be distinguished from patients with major depressive disorder or schizoaffective disorder using any definition of REM latency. These results were not due to longer REM latency in the particular sample of patients with major depressive disorder. They had abnormally low REM latencies; however, the schizophrenic patients showed similar decrements. These data cast serious doubt on the specificity of short REM latency as a biological marker for major depressive disorder.

Adult↗
PubMed1993

[The effect of organophosphorus pesticide (fenthion) on GABA-cells in the central nuclei].

Organophosphorus pesticide (OP) produces abnormal eye movements. This is possibly due to an inhibition of central cholinergic neurons as well as GABAnergic neurons. Using anti-GABA-antibody, the authors studied the effect of OP on GABA-positive cells in the central nervous system. Fenthion (dimethyl 4-methylthion-m-tolyl-phosphorothionate, 20 mg/kg body weight), was given subcutaneously to the dorsal portion of Wistar rats for 30 days. After staining, the number of GABA-positive cells were counted at the superior colliculus (SC), the cerebellum, and the substantia nigra reticularis (SNR) on day 6, 10, 14, 18, 22, 26 and 30 respectively. The number of GABA-positive cells reduced in the cerebellum, SNR and SC decreasing remarkably after the initiation of fenthion administration. The number of GABA-positive cells also decreased in lateral geniculate nucleus and pretectal nuclei. Those results suggest that the reduction of GABA-positive cells produces abnormal eye movements in human OP intoxication.

Animals↗
PubMed2002

Eye movement abnormality suggestive of a spatial working memory deficit is present in parents of autistic probands.

Autistic probands exhibit impaired spatial accuracy and impaired response suppression errors during a delayed oculomotor response task. Family members of autistic probands, and thus the possible familial nature of these deficits, have not been assessed. Eleven parents of autistic probands and 17 adults from unaffected families, ages 25-50 years, completed oculomotor delayed-response tasks. Parents of autistic probands demonstrated poorer spatial accuracy than the comparison group (p = .002), with no significant differences between groups on percentage of premature saccades or latency of remembered saccades. Spatial working memory deficits, as measured by the delayed oculomotor response task, appear to be familial in families with an autistic proband. These deficits deserve further evaluation as a potential endophenotypic marker for genetic risk for autism.

Adult↗
PubMed2002

Familial diffuse Lewy body disease, eye movement abnormalities, and distribution of pathology.

BACKGROUND: Familial diffuse Lewy body disease (DLBD) is rare and not yet associated with a defect in the synuclein gene. In the differential diagnosis of the parkinsonian syndromes, defects in vertical gaze tend to be identified with progressive supranuclear palsy. False-positive diagnosis of progressive supranuclear palsy can occur, and defects in vertical gaze have been reported in DLBD, although so far a pure vertical gaze palsy associated with pathological abnormalities in the substrate for vertical gaze has not been described. OBJECTIVES: To report the clinical and pathological findings in 2 siblings with DLBD, and to relate the distribution of the pathological abnormalities in the brainstem to centers for vertical gaze. MATERIALS: For several years, 2 Irish siblings experienced a progressive parkinsonism-dementia complex associated in one with a defect in vertical gaze and in both with visual hallucinations. RESULTS: In both patients, results of pathological examination revealed (1) Lewy bodies positive for ubiquitin and alpha-synuclein together with cell loss and gliosis in the substantia nigra, locus ceruleus, and neocortex; and (2) similar findings in the rostral interstitial nucleus of the medial longitudinal fasciculus, the posterior commissure, and the interstitial nucleus of Cajal (substrates for vertical gaze). CONCLUSIONS: Familial DLBD (not shown to be genetically as distinct from environmentally transmitted) has been shown to exist in an Irish family. Caution should be enjoined in the interpretation of defects in vertical gaze in the differential diagnosis of the parkinsonian syndromes.

Aged↗
PubMed2003

Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.

PAX6, a paired box transcriptional factor, is considered as the master control gene for morphogenesis of the eye. Human PAX6 mutations have been associated with a range of eye abnormalities, including aniridia, various anterior segment defects and foveal hypoplasia. We carried out a mutational analysis of the PAX6 gene in 54 unrelated patients with aniridia or related syndromes. A deleterious variation was evidenced in 17 sporadic cases (50%) and in 13 (72%) familial cases. Twenty-four different mutations, 17 of which are novel, were found. The spectrum of PAX6 mutations was highly homogeneous: 23 mutations (96%) leading to premature stop codons (eight nonsense and four splice site mutations, 11 insertions and deletions) and only one (4%) missense mutation. Twenty-two mutations were associated with aniridia phenotypes whereas two were associated with atypical phenotypes. These latter encompassed a missense mutation (R19P) in an individual with a microphthalmia-sclerocornea and a splice site mutation (IVS4+5G > C) in a family presenting with a congenital nystagmus. Both represented the most probably hypomorphic alleles. Aniridia cases were associated with nonsense or frameshifting mutations. A careful examination of the phenotypes did not make it possible to recognise significant differences whenever the predicted protein was deprived of one or another of its functional domains. This strongly suggested that most of the truncating mutations generated null alleles by nonsense mediated mRNA decay. Our observations support the concept of dosage effects of the PAX6 mutations as well as presenting evidence for variable expressivity.

Eye Abnormalities↗
PubMed1977

Abnormal-pursuit eye movements in schizophrenia. Evidence for a genetic indicator.

Disordered smooth-pursuit eye movements occur in a high percentage of schizophrenic patients and their first-degree relatives. A Test of the hypothesis that these disorders represent a genetic indicator of schizophrenia was undertaken by testing pursuit eye movements in a sample of monozygotic and dizygotic twins discordant for clinical schizophrenia. Deviant eye tracking is significantly concordant within monozygotic twin pairs, and less so with dizygotic twin pairs discordant for schizophrenia. A genetic interpretation is consistent with these results.

Adult↗
PubMed2003

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.

Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of lens, severe myopia, and glaucoma. Both autosomal recessive (AR) and autosomal dominant (AD) modes of inheritance have been described for WMS. A locus for AR WMS has recently been mapped to chromosome 19p13.3-p13.2 while mutation within the fibrillin-1 gene (15q21.1) was found in one AD WMS family. In order to answer the question of whether or not genetic heterogeneity could be related to a clinical heterogeneity, we reviewed 128 WMS patients from the literature (including 57 AR, 50 AD, and 21 sporadic cases), with a particular attention to clinical features. Statistical analyses using Fischer exact test were used to compare the proportions of 12 clinical parameters between AR and AD patients. There was no significant difference between both groups for myopia, glaucoma, cataract, short stature, brachydactyly, thick skin, muscular build, and mental retardation. Significant results were found for microspherophakia (94% in AR, 74% in AD, Fischer 0.007), ectopia lentis (64% in AR, 84% in AD, Fischer 0.016), joint limitations (49% in AR, 77% in AD, Fischer 0.010), and cardiac anomalies (39% in AR, 13% in AD, Fischer 0.004). Nevertheless, we failed to distinguish AR from AD inheritance in individual cases. These results support the clinical homogeneity but the genetic heterogeneity of WMS.

Abnormalities, Multiple↗
PubMed2006

Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome.

OBJECTIVE: To describe the prenatal findings in Pierson syndrome, a newly defined autosomal recessive entity, comprising congenital nephrotic syndrome (CNS) with diffuse mesangial sclerosis and distinct eye abnormalities due to LAMB2 mutations. METHODS: Serial prenatal ultrasound examinations were performed in four consecutive pregnancies affected by Pierson syndrome in the same family. LAMB2 mutations were demonstrated in retrospect by direct sequencing of the gene in the newborn index patient and three abortuses. RESULTS: Fetal ultrasound consistently revealed marked renal hyperechogenicity associated with variable degree of pyelectasis. These features were detectable by 15 weeks of gestation in all fetuses. Hydrops fetalis due to severe hypalbuminemia demonstrated by chordocentesis occurred in one fetus. Placentas were significantly enlarged. Development of oligohydramnios indicated prenatal decline of renal excretory function. Anencephaly was detected in another fetus with molecularly proven Pierson syndrome at 12 weeks of gestation. CONCLUSION: We conclude that Pierson syndrome has to be considered in the differential diagnosis of nephrotic disorders with prenatal onset. Ultrasound criteria for differentiation from the most common type of CNS-congenital nephrosis of the Finnish type (CNF)-are discussed. Because of its prognostic relevance, we advocate molecular genetic testing of LAMB2 in any case of prenatally detected nephrotic syndrome with negative results of NPHS1 mutational screening, especially in the presence of the typical sonomorphologic findings of the kidneys and the development of oligohydramnios.

Abnormalities, Multiple↗
PubMed1995

The effect of normal childbirth on eyes with abnormalities predisposing to rhegmatogenous retinal detachment.

BACKGROUND: Pregnant women who have high myopia, a history of retinal detachment or retinal holes, or have known lattice degeneration are frequently referred to an ophthalmologist for advice concerning the management of pregnancy and labor, i.e. whether a spontaneous vaginal delivery can be allowed and whether prophylaxis for high-risk retinal pathology is indicated. Many obstetricians still believe that pregnant women with ocular abnormalities predisposing to rhegmatogenous retinal detachment should have an instrumental delivery, and a few even advocate cesarian section. Very little has been written about the management of pregnant women with high-risk retinal pathology, and opinions differ considerably. Patient data on this subject are scarce. METHODS: We studied 10 women who had 19 deliveries (10 prospective and 9 retrospective) and who had a history of retinal detachment, had been diagnosed as having extensive lattice degeneration, or had been treated for symptomatic retinal holes or breaks. The women were followed from the third trimester of pregnancy through labor and delivery into the postpartum period, looking for changes in the retinal status. RESULTS: We found no changes in the retinal status in the postpartum examination. CONCLUSION: We conclude that prenatal treatment of asymptomatic retinal pathology is not indicated and that spontaneous vaginal delivery may be allowed to take place in women with high-risk retinal pathology.

Adult↗
PubMed2000

Quantitative characterization of eye tracking dysfunction in schizophrenia.

The purpose of this study was to characterize the nature of the processes that are involved in eye tracking dysfunction (ETD). We identified a combination of quantitative measures that best distinguished qualitatively normal eye tracking from qualitatively abnormal eye tracking, using discriminant analysis. Discriminant scores distinguished schizophrenics with ETD from both schizophrenics with normal eye tracking and normal controls, but did not distinguish schizophrenics with normal eye tracking from normal controls, underscoring the heterogeneity of schizophrenic patients with respect to eye tracking. The results of the discriminant analysis indicated that ETD is a multivariate process involving a primary impairment in the smooth pursuit system characterized by increased catch-up saccades and reduced gain, and, secondarily, disinhibition of intrusive saccades, especially square-wave jerks. Quantitative characterization of ETD makes it possible to consider eye tracking as a quantitative trait in genetic investigations of a multidimensional phenotype.

Adult↗
PubMed2026

Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder.

Pathogenic variants of genes encoding initiation factors can cause neurological diseases, including neurodevelopmental disorders and brain abnormalities. The eukaryotic translation initiation factor 1&#x2009;A, X-linked (EIF1AX) is a gene located at Xp22.12 that plays an important role in the regulation of translation initiation. Here, we identified de novo hemizygous EIF1AX variants in male individuals with neurodevelopmental disorders and explored their possible involvement in these neurological disorders. We performed trio-based exome or whole genome sequencing in four families. The pathogenicity of EIF1AX variants was evaluated using a molecular dynamic simulation and transgenic Drosophila models. We identified four de novo hemizygous EIF1AX variants in four male individuals with variable neurodevelopmental delay, dysmorphic features, behavioral problems, ophthalmological abnormalities, and structural abnormalities in the brain. One variant was predicted to cause a splicing alteration, and minigene analysis confirmed exon skipping leading to the generation of a premature termination codon. In transgenic Drosophila harboring wild-type (WT) EIF1AX or the three other EIF1AX missense variants, overexpression of WT and the p.(Asn17Asp) variant caused structural abnormalities in the compound eye, whereas the p.(Lys64Glu) and p.(Asp90Gly) variants significantly reduced these eye abnormalities. In addition, WT overexpression resulted in significant axonal toxicity in the Drosophila optic nerve, causing a significant reduction in the number of axons, whereas all mutants showed only a mild reduction in axonal number. Our findings indicated that all variants resulted in different degrees of EIF1AX loss-of-function. Overall, EIF1AX is a novel gene for which loss-of-function variants appear to produce syndromic neurodevelopmental disorders in males.

Humans↗