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PubMedDate not supplied

Effects of embryonic exposure to ethanol on zebrafish visual function.

Across a variety of species, including humans, it has been shown that embryos exposed to ethanol display eye abnormalities as well as deficiencies in visual physiology and behavior. The purpose of this study was to examine the effects of embryonic exposure to ethanol on visual function in zebrafish. Visual function was assessed physiologically, via electroretinogram (ERG) recordings, and behaviorally, by measuring visual acuity with the optomotor response. Zebrafish larvae were exposed to 1.5% ethanol at various times during development, including the period of maximal eye development. The results show that ethanol effects on visual function were most pronounced when exposure occurred during eye development. ERG recordings from ethanol-exposed larvae differed from normal subjects both in shape of the response waveform and in visual thresholds under both light and dark adaptation; the differences were more pronounced under lower levels of adaptation. Also, ethanol-exposed larvae displayed lower visual acuity as determined from the optomotor response. These results indicate embryonic ethanol exposure affects visual function particularly when exposure occurs during eye development. In addition, these findings illustrate the usefulness of the zebrafish as a viable animal model for studying Fetal Alcohol Syndrome (FAS).

Alcohol-Induced Disorders, Nervous System↗
PubMedDate not supplied

Oculomotor abnormalities in chronic GM2 gangliosidosis.

The clinical and electro-oculographic eye abnormalities in chronic GM2 gangliosidosis have been described. The most prominent oculomotor disturbances in our patients involved the pursuit system. This was evident during performance of eye tracking and vestibulo-ocular reflex suppression. Saccadic eye movements were dysmetric but were normal in velocity. These findings point to disturbances of cerebellar oculomotor control. While the oculomotor defects are nonspecific in this chronic form of beta-hexosaminidase A deficiency, they broaden the spectrum of clinical features considered to be typical ocular manifestations in many storage diseases. Disturbances in the oculomotor system may be the only ocular sign of chronic GM2 gangliosidosis.

Adolescent↗
PubMed2005

[Incomplete expression of PHACE (S) syndrome: facial hemangioma associated with absence of the internal carotid artery].

INTRODUCTION: Hemangiomas are the most common benign tumors in childhood. In rare cases, they can be associated with dysmorphic malformations. The acronym, the PHACE (S) syndrome, was recently described by Frieden et al. in 1996 as a large facial or cervical Hemangioma, associated with one or more of the following systemic abnormalities including:Posterior fossa malformation, Arterial abnormalities, Coarctation of the aorta and/or cardiac defects, Eye abnormalities and Sternal clefts. CASE REPORT: A 2 year-old girl presented with a large left hemifacial hemangioma. The rest of the clinical examination was normal. Initially, simple clinical surveillance was scheduled. The outcome was good with almost complete regression of the hemangioma by the age of 8. However, there were remains to the left of the upper lip and plastic surgery was scheduled. Pre-operative conventional arteriography revealed the complete, asymptomatic, absence of the ipsilateral internal carotid artery. Cerebral MRI and cardiac ultrasonography were normal. In the absence of somatic manifestations, regular clinical surveillance was decided on. DISCUSSION: Large facial or cervical hemagiomas can be associated with one or more systemic abnormalities described by the PHACE (S) acronym. Its prevalence is unknown, but is shows marked female preponderance. Among the systemic abnormalities, neurological and cardiac malformations predominate. Hence the PHACE (S) syndrome must be recognized. Moreover, in patients presenting with large facial or cervical hemangioma, the following examinations should be performed: neurological examination and cerebral MRI to rule out abnormality of the posterior fossa, completed by a sequence of angio-MRI in the search for cerebral artery malformations; cardiovascular exploration, completed by echocardiography in the case of doubt and examination of the eyes and sternum. Lastly, the enhanced risk of laryngeal sub-glottis hemangioma should be kept in mind.

Abnormalities, Multiple↗
PubMed1992

Malformations of the eye in the exencephalic tail-short mice during its development.

Exencephalic tail-short (Ts/+) embryos were obtained from mating normal mice of Patch strain with Ts/+ mice from Babl/c strain. The most common eye malformations in the exencephalic embryos were exophthalmy, microphthalmy, eye ball irregularity and corneal opacity. Squint eye and unilateral anophthalmy occurred at a lower frequency. The eye abnormalities were recognized histologically by 11-days of gestation. The retina was retarded in development. Lens fibres were swollen and some of them appeared degenerated. Lens epithelium was protruded anteriorly, detached from the underlying lens and joined the corneal endothelium. The lens remained in close contact to the ectodermal layer, forming a thick lens stalk. At the 16-day stage, the corneal epithelium became irregular in thickness and the corneal stroma was discontinuous, having disarranged collagenous fibrils. In a few embryos the corneal endothelium was absent. In the squint-eyed embryo, the cornea bulged through the opened eyelids, while in an anophthalmic embryo it was thick and underdeveloped. Generally, the upper and lower eyelids of the exencephalic embryos were asymmetrical, and the lower lid appeared covered by a thick irregular peridermal layer.

Animals↗
PubMed2004

Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.

O-mannosylation is an important protein modification in eukaryotes that is initiated by an evolutionarily conserved family of protein O-mannosyltransferases. The first mammalian protein O-mannosyltransferase gene described was the human POMT1. Mutations in the hPOMT1 gene are responsible for Walker-Warburg syndrome (WWS), a severe recessive congenital muscular dystrophy associated with defects in neuronal migration that produce complex brain and eye abnormalities. During embryogenesis, the murine Pomt1 gene is prominently expressed in the neural tube, the developing eye, and the mesenchyme. These sites of expression correlate with those in which the main tissue alterations are observed in WWS patients. We have inactivated a Pomt1 allele by gene targeting in embryonic stem cells and produced chimeras transmitting the defect allele to offspring. Although heterozygous mice were viable and fertile, the total absence of Pomt1(-/-) pups in the progeny of heterozygous intercrosses indicated that this genotype is embryonic lethal. An analysis of the mutant phenotype revealed that homozygous Pomt1(-/-) mice suffer developmental arrest around embryonic day (E) 7.5 and die between E7.5 and E9.5. The Pomt1(-/-) embryos present defects in the formation of Reichert's membrane, the first basement membrane to form in the embryo. The failure of this membrane to form appears to be the result of abnormal glycosylation and maturation of dystroglycan that may impair recruitment of laminin, a structural component required for the formation of Reichert's membrane in rodents. The targeted disruption of mPomt1 represents an example of an engineered deletion of a known glycosyltransferase involved in O-mannosyl glycan synthesis.

Abnormalities, Multiple↗
PubMed1997

Hydrocephalus with periventricular encephalitis in the dog.

A 3-month-old female Dalmatian dog and a 2.5-month-old Poodle dog were referred with a sudden onset of neurological syndrome consistent with hydrocephalus. Clinical signs included depression, severe ataxia, eye abnormalities and skull enlargement in one case. Postmortem examination revealed severe internal hydrocephalus with cavitation of the cerebral white matter associated with necrotizing and inflammatory lesions of the periventricular nervous tissue. Although no bacteria were isolated from cerebrospinal fluid and no infectious agents were detected in the brains, an infectious etiology was postulated.

Animals↗
PubMed1991

Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia?

We describe 3 young children with Hallermann-Streiff syndrome, 2 with typical manifestations and 1 with the facial changes without the eye abnormalities but with a cleft palate and with complete syndactyly of fingers IV and V. The latter case represents overlap of the Hallermann-Streiff syndrome and oculodentodigital dysplasia. "Dwarfism" as a possible clinical risk marker of mental retardation is discussed. As cause, a mendelian autosomal dominant mutation seems most probable.

Child, Preschool↗
PubMed2006

Early stroke and cerebral vasculopathy in children with facial hemangiomas and PHACE association.

PHACE association is a rare neurocutaneous syndrome that may include posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities, and sternal defects. The arterial abnormalities may be developmental or acquired and usually involve the cervical and cerebral vasculature. We believe that infants with PHACE association are at increased risk of arterial ischemic stroke and describe 5 infants with facial hemangiomas and structural and acquired arterial anomalies, all of whom suffered an arterial ischemic stroke during infancy.

Central Nervous System Vascular Malformations↗
PubMed1978

Analysis of optokinetic and eye tracking data on normal subjects.

This study was undertaken to determine the incidence of abnormal eye tracking patterns in normal subjects and to compare the optokinetic (OPK) response of normal subjects using a nystagmographic gonioscope (Nystagmotrac) and Coats's type of OPK drum. Eye movement was recorded by means of an electronystagmographic (ENG) recorder, and the speed of the slow component was computed for the OPK response. The eye tracking test showed a high rate of abnormality among our subjects. Optokinetic testing revealed highly symmetrical responses for all subjects.

Adolescent↗
PubMed2002

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.

Walker-Warburg syndrome (WWS) is an autosomal recessive developmental disorder characterized by congenital muscular dystrophy and complex brain and eye abnormalities. A similar combination of symptoms is presented by two other human diseases, muscle-eye-brain disease (MEB) and Fukuyama congenital muscular dystrophy (FCMD). Although the genes underlying FCMD (Fukutin) and MEB (POMGnT1) have been cloned, loci for WWS have remained elusive. The protein products of POMGnT1 and Fukutin have both been implicated in protein glycosylation. To unravel the genetic basis of WWS, we first performed a genomewide linkage analysis in 10 consanguineous families with WWS. The results indicated the existence of at least three WWS loci. Subsequently, we adopted a candidate-gene approach in combination with homozygosity mapping in 15 consanguineous families with WWS. Candidate genes were selected on the basis of the role of the FCMD and MEB genes. Since POMGnT1 encodes an O-mannoside N-acetylglucosaminyltransferase, we analyzed the possible implication of O-mannosyl glycan synthesis in WWS. Analysis of the locus for O-mannosyltransferase 1 (POMT1) revealed homozygosity in 5 of 15 families. Sequencing of the POMT1 gene revealed mutations in 6 of the 30 unrelated patients with WWS. Of the five mutations identified, two are nonsense mutations, two are frameshift mutations, and one is a missense mutation. Immunohistochemical analysis of muscle from patients with POMT1 mutations corroborated the O-mannosylation defect, as judged by the absence of glycosylation of alpha-dystroglycan. The implication of O-mannosylation in MEB and WWS suggests new lines of study in understanding the molecular basis of neuronal migration.

Abnormalities, Multiple↗
PubMed2005

Difficulties with prenatal diagnosis of the Walker-Warburg syndrome.

We describe a postnatally diagnosed case of Walker-Warburg syndrome--a form of congenital muscular dystrophy with lissencephaly and eye abnormalities. We reviewed the literature to highlight its clinico-radiological diagnostic features and discuss the difficulties encountered with prenatal diagnosis, especially in cases with no positive family history. An increased awareness of this rare but lethal condition, and a high index of suspicion during routine antenatal ultrasound, could prompt further advanced fetal ultrasonography and magnetic resonance imaging, and aid in timely prenatal diagnosis, management, and counseling.

Adult↗
PubMed1977

Effect of large amounts of vitamin E during pregnancy and lactation.

The effects of excessive intake of vitamin E during gestation and lactation on female rats and their progeny were studied. Pregnant rats receiving large doses of vitamin E (22.5 to 2252 mg/kg per day) had larger livers, higher levels of lipids and vitamin E in plasma, and higher concentrations of vitamin E in the livers than did controls. These deviations from normal were not, however, observed for all levels of supplementation. No obvious teratogenic effects were observed in the newborn young of the vitamin E-supplemented rats. Some eye abnormalities were seen in the older pups of rats given extremely high amounts of the vitamin. The survival rate, weight of the pups, and litter size were unaffected. However, the pups of the mothers who had received 500 mg of vitamin E per day (2252 mg/kg per day) during gestation and lactation had a much higher concentration of vitamin E in their livers and plasma than did controls. This study also confirmed the observation that vitamin E transfer across the placenta is negligible and that mammary transfer of this vitamin is quite efficient.

Animals↗
PubMed2004

Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease.

BACKGROUND: Muscle-eye-brain disease (MEB) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy, structural eye abnormalities, and type II lissencephaly. Previous reports of brain abnormalities on magnetic resonance images (MRIs) in MEB have been in children older than 1 year. OBJECTIVE: To describe serial antenatal and postnatal brain MRIs in a child with MEB. DESIGN: Case report. PATIENT: We report a 2-year-old white boy with genetically confirmed MEB. Antenatal MRIs at 25 and 35 weeks' gestation showed posterior ventriculomegaly but no cortical dysplasia. A postnatal brain MRI at age 1 week showed frontal cortical dysplasia and abnormal signal intensity within the frontal white matter. A brain MRI at 8 months showed bilateral frontoparietal polymicrogyria. All images demonstrated flattening of the pons and mild hypoplasia of the inferior vermis. The child had no weakness, and muscle involvement was only suspected when the serum creatine kinase level was found to be elevated at age 8 months. CONCLUSION: Cortical dysplasia in MEB may not be evident until several postnatal months; therefore, if MEB is suspected, brain MRI performed in the first few months of life should be interpreted with caution.

Brain↗
PubMed1998

The gonadotropin-releasing hormone system does not develop in Small-Eye (Sey) mouse phenotype.

This study examined the development of the gonadotropin releasing-hormone (GnRH) system in a spontaneous mouse mutation, Small-Eye (Sey). This phenotype is due to a point mutation in the developmental control gene Pax-6 and results in failed development of the eye and olfactory placodes in homozygous (Sey/Sey) embryos and a variety of eye abnormalities in heterozygotes (Sey/+). Therefore, Sey/Sey embryos provided a naturally occurring olfactory placode ablation to ask whether all of the GnRH neurons found in the adult mouse forebrain arise from the olfactory epithelium. In Sey/Sey embryos, GnRH-immunoreactive neurons were not present in either the presumptive nasal regions or in any area of the brain at any embryonic age. In contrast, in Sey/+ embryos, there was no apparent effect on either GnRH cell proliferation or migration. These data support and extend the hypothesis that GnRH neurons in mice originate in the olfactory placodes and also demonstrate that two normal alleles of Pax-6 are not required for GnRH system development.

Alleles↗
PubMed1993

Neuropathology of lissencephalies.

The neuropathological findings at autopsy in four cases of type I and three of type II lissencephaly are presented. Type I lissencephaly is characterized by agyriapachygyria with a markedly thickened cerebral cortex with four coarse histological layers. The normally myelinated white matter, often with neuronal heterotopias, is very narrow, and the gray-to-white matter ratio is inverted (about 4:1); there are no white-gray interdigitations. Claustrum and capsula extrema are absent. Ventricular dilatation is present, especially of the occipital horns. In the hypoplastic brain stem large olivary heterotopias can often be observed. Severe cerebellar malformations, obstructive hydrocephalus, severe eye abnormalities, and congenital muscular dystrophy are not seen. Clinically, type I lissencephaly presents as "isolated lissencephaly sequence" or as "Miller-Dieker syndrome" with characteristic facial dysmorphism. The long survival of 20 years achieved by one of our patients is very uncommon. Type II lissencephaly is characterized by widespread agyria. Usually, obstructive hydrocephalus is present with a thin cerebral mantle showing a slightly thickened cortex and a narrow, hypomyelinated white matter often with neuronal heterotopias (gray-to-white matter ratio about 1:1). The border between gray and white matter is blurred. Claustrum and capsula extrema are absent. Histologically, the cortex appears disorganized without layering; widespread leptomeningeal gliomesenchymal proliferations and glioneuronal heterotopias are present.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed2006

Ocular manifestations of Fabry's disease: data from the Fabry Outcome Survey.

BACKGROUND: Fabry's disease is an X-linked lysosomal storage disorder characterised by deficient activity of the enzyme alpha-galactosidase A. AIM: To study eye abnormalities in patients with Fabry's disease in the Fabry Outcome Survey (FOS). METHODS: This is the largest study of ocular manifestations in patients with Fabry's disease. In all, 173 of the 688 patients enrolled in FOS underwent a detailed ophthalmic examination, with a special focus on abnormalities of the cornea, lens, conjunctival and retinal vessels. RESULTS: Cornea verticillata was reported in 76.9% of females and 73.1% of males; vessel tortuosity was observed in 21.9% of females and in 48.7% of males. Fabry cataract was recorded in 9.8% of females and in 23.1% of males. Cornea verticillata was therefore the most frequently reported ophthalmic abnormality in Fabry's disease in both hemizygotic males and heterozygotic females. Tortuous conjunctival and retinal vessels and Fabry cataract were more frequently found in males than in females. Vessel tortuosity was more frequently observed in patients with a higher severity score and greater impairment of renal and cardiac function, suggesting that it may be associated with a more severe disease. The youngest patient with ocular changes was 3 years old. The prevalence of tortuous vessels in males increased with age. CONCLUSION: The presence of cornea verticillata is a useful aid in the diagnosis of Fabry's disease, as it is often present at the time of diagnosis. Vessel tortuosity may have some predictive value for systemic involvement.

Adolescent↗