Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Eye Abnormalities”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

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

At least 883 records · Page 49Linked to original sources
PubMed2002

[Congenital megalocornea].

Congenital megalocornea is a bilateral enlargement of the cornea's diameter that can be associated with trabecula and/or iris dysgenesis. This condition predisposes the patient to glaucoma. The physiopathology is poorly understood and may be related to lens induction during embryological development of the anterior of the eye. X-linked genetic transmission is found in 50% of cases, autosomal transmission in 40%, and sporadic transmission in the remaining 10%. Diagnosis is based on a thorough examination of the child's eye, often with general anesthesia. Different clinical aspects can be observed: simple megalocornea without ocular or systemic anomalies, megalocornea with ocular and/or systemic anomalies as well as multiple malformation syndromes, dermatological diseases, skeletal diseases, and genetic or chromosomic diseases. A systematic general pediatric examination is therefore necessary. Congenital megalocornea must be considered, first of all, as a differential diagnosis of primary congenital glaucoma and all of its etiologies. Treatment of associated ocular diseases, the search for an association with systemic diseases, and follow-up for the rest of the patient's life are indispensable.

Child, Preschool↗
PubMed2001

[SCA17, a novel polyglutamine disease caused by the expansion of polyglutamine tracts in TATA-binding protein].

We have recently identified a novel SCA form in nine patients from four Japanese pedigrees through the screening for expanded polyglutamine tracts by Western blotting analysis with a monoclonal 1 C 2 antibody that recognizes specifically pathological polyglutamine tracts. This disease is caused by an abnormal CAG/CAA expansion in the TATA-binding protein gene (TBP), a general transcription initiation factor. This abnormal expansion of glutamine tracts in TBP ranges 47 to 55 repeats, whereas the normal repeat number ranges from 29 to 42. Immunocytochemical examination of a postmortem brain that carried 48 CAG repeats detected neuronal intranuclear inclusion bodies (NIIs) that stained with anti-ubiquitin antibody, anti-TBP antibody and with the 1 C 2 antibody. Most patients presented in the third decade with gait ataxia and dementia, progressing over several decades to include bradykinesia, dysmetria, dysdiadockokinesis, hyperreflexia and paucity of movement. No abnormal eye movements were present in any patient. This disease resembles the spinocerebellar ataxias including Dentato-rubal pallidoluysian atrophy (DRPLA) more closely than any other form of neurodegenerative disorder. Further study of this disease should provide important information for unraveling the molecular pathogenesis of neuronal cell degeneration as well as for the development of future therapeutic interventions.

Cerebellar Ataxia↗
PubMed2002

Recession and anterior transposition of the inferior oblique muscle [RATIO] to treat three cases of absent inferior rectus muscle.

BACKGROUND AND PURPOSE: The "loss" of an extraocular muscle during a surgical procedure requires a prompt solution. Muscle agenesis produces a strabismus of difficult resolution. In these cases, alternative strategies are required to restore the binocular alignment. We present three consecutive cases of inferior rectus absence that were successfully surgically resolved. SUBJECTS AND METHODS: Three children with absent inferior rectus muscles are presented; one due to loss during strabismus surgery and two due to inferior rectus agenesia. All were treated with recession and anterior transposition of the inferior oblique muscle [RATIO]. RESULTS: All patients achieved a satisfactory result with the technique employed. CONCLUSION: RATIO is a useful procedure to restore binocular alignment in cases of inferior rectus absence.

Adolescent↗
PubMedDate not supplied

[Basic trends in the organization of ocular prosthetics service].

The key issues related with rendering the ocular prosthetic aid to patients with anophthalmos and with cosmetically inferior, i.e. a smaller-size, blind eye, are in the focus of attention. Around 320,000 persons need ocular prostheses in the territory of the Russian Federation, hence adequate prosthetic measures are taken to cope with the cosmetic, medical and social rehabilitation of patients. The ocular prosthetics service deals with issues related with prostheses manufacturing technologies as well as with other therapeutic and surgical aspects which call for working out a unified policy with its subsequent commissioning into the practice of ophthalmologic institutions.

Adult↗
PubMed2003

Identification of a Pax6-dependent epidermal growth factor family signaling source at the lateral edge of the embryonic cerebral cortex.

In an emerging model, area patterning of the mammalian cerebral cortex is regulated in part by embryonic signaling centers. Two have been identified: an anterior telencephalic source of fibroblast growth factors and the cortical hem, a medial structure expressing winglessint (WNT) and bone morphogenetic proteins. We describe a third signaling source, positioned as a mirror image of the cortical hem, along the lateral margin of the cortical primordium. The cortical antihem is identified by gene expression for three epidermal growth factor (EGF) family members, Tgf(alpha), Neuregulin 1, and Neuregulin 3, as well as two other signaling molecules, Fgf7 and the secreted WNT antagonist Sfrp2. We find that the antihem is lost in mice homozygous for the Small eye (Pax6) mutation and suggest the loss of EGF signaling at least partially explains defects in cortical patterning and cell migration in Small eye mice.

Animals↗
PubMed2003

Cervico-cerebrovascular anomalies in children with PHACE syndrome.

BACKGROUND: The acronym PHACE describes a rare neurocutaneous syndrome encompassing the following features: posterior fossa brain malformation, hemangioma, arterial anomalies, coarctation of aorta and cardiac defects, and eye abnormalities. This report describes the cervico-cerebrovascular anomalies (CCVA) in 7 patients with PHACE syndrome. METHODS: The medical records of 7 children (4 girls and 3 boys) with the diagnosis of PHACE syndrome who underwent cranial computed tomography and magnetic resonance imaging as well as complete cerebral angiography were retrospectively studied. RESULTS: All 7 patients had underlying CCVA. Neurologic symptoms were present in 5 of the 7 patients. CCVA included vascular stenosis and/or occlusion (n = 5), aberrant course or origin of arteries (n = 7), persistent embryonic carotid-vertebrobasilar anastomoses (n = 2) and fusiform or berry aneurysm formation (n = 5). Arterial agenesis or absence was found in 2 patients and hypoplastic arteries were present in 3 children. CONCLUSIONS: PHACE syndrome is associated with a high incidence of wide-spectrum CCVA. The most common CCVA is aberrant course or origin of arteries, followed by arterial stenosis and/or occlusion, aneurysm formation, arterial agenesis or hypoplasia and persistent carotid-vertebrobasilar anastomosis. Part of the CCVA may be associated with secondary neurologic sequelae. PHACE syndrome should be considered in any children with extensive facial hemangioma. Neuroimaging such as brain computed tomography, magnetic resonance imaging, and magnetic resonance angiography are recommended in order to search for structural cerebral defects and intracranial vascular alterations.

Abnormalities, Multiple↗
PubMed1992

[Multiple system atrophy with macro square wave jerks and pendular nystagmus].

A 51-year-old woman was admitted to our hospital because of gait disturbance and dysuria. Neurological examination revealed limb and truncal ataxia, orthostatic hypotension, cogwheel rigidity in all limbs, generalized hyperreflexia without pathological reflex, and horizontal gaze nystagmus. She became progressively worse and bedridden at age 52. Then she developed abnormal eye movements. Electrooculogram revealed vertical, horizontal or oblique macro square wave jerks and pendular nystagmus. Macro square wave jerks appeared during fixation and disappeared with eye closure or in the dark room. Macro square wave jerks were characterized by a duration of about 200 msec and an amplitude of 10 to 15 degrees. Pendular nystagmus with a duration of several seconds and amplitude of 5 to 15 degrees appeared when she changed her fixation or the point of fixation disappeared. Macro square wave jerks and pendular nystagmus were mildly suppressed after the intramuscular injection of 100 mg of phenobarbital, the oral intake of sodium valproate of 600 mg/day or baclofen of 60 mg/day. They were almost completely depressed after the intravenous injection of 3 mg of diazepam or the oral intake of clonazepam of 1.5 mg/day. We suggested that both macro square wave jerks and pendular nystagmus in this patient might be caused by the dysfunction of GABAergic system in the saccadic eye movement system.

Atrophy↗
PubMed1992

Teratogenicity of cadmium chloride in the South African frog, Xenopus laevis.

The teratogenicity of cadmium chloride was tested by the FETAX (Frog Embryo Teratogenesis Assay: Xenopus) procedure. In five assays, groups of Xenopus embryos were grown in media containing concentrations of 0.75-56 mumol/l; controls were incubated in medium without cadmium chloride. Exposures began 5 h post-fertilization and ended 101 h post-fertilization. In control groups, > 95% of embryos survived at 101 h and the incidence of malformations was < 7%. In Cd(2+)-exposed groups, concentration-dependent mortality and numerous malformations were observed, including gut malrotation, ocular anomalies, bent notochord, misshapen fin, facial dysplasia, cardiac deformities and dermal blisters. Other abnormalities included stunted growth and hypopigmentation. The minimum concentration of cadmium chloride that inhibited growth was 18 mumol/l. The median embryolethal concentration (LC50) was 32 (SE +/- 4) mumol/l; the median teratogenic concentration (EC50) was 3.7 (SE +/- 1) mumol/l; the teratogenic index (TI = LC50/EC50) was 8.6. This study demonstrates that cadmium chloride is teratogenic for Xenopus laevis and provides a standardized experimental model for studying the molecular mechanisms of cadmium teratogenesis.

Abnormalities, Drug-Induced↗
PubMedDate not supplied

Microphthalmus.

Explore the source record for details and available documents.

Congenital Abnormalities↗