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At least 667 records · Page 37Linked to original sources
PubMed2004

PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect.

PHACE Syndrome is a neurocutaneous disease spectrum encompassing the following features: Posterior fossa brain malformations, large facial Hemangiomas, Arterial anomalies, Coarctation of the aorta and cardiac defects, and Eye abnormalities. We report the ocular and systemic findings, as well as the management course, of an infant who has all the characteristic features of PHACE syndrome and also describe what we believe to be the first reported case of this syndrome with Persistent Fetal Vasculature (PFV).

Abnormalities, Multiple↗
PubMed2004

MAE, a dual regulator of the EGFR signaling pathway, is a target of the Ets transcription factors PNT and YAN.

Ets transcription factors play crucial roles in regulating diverse cellular processes including cell proliferation, differentiation and survival. Coordinated regulation of the Drosophila Ets transcription factors YAN and POINTED is required for eliciting appropriate responses to Receptor Tyrosine Kinase (RTK) signaling. YAN, a transcriptional repressor, and POINTED, a transcriptional activator, compete for regulatory regions of common target genes, with the ultimate outcome likely influenced by context-specific interactions with binding partners such as MAE. Previous work in cultured cells has led us to propose that MAE attenuates the transcriptional activity of both YAN and POINTED, although its effects on POINTED remain controversial. Here we describe a new layer of complexity to this regulatory hierarchy whereby mae expression is itself directly regulated by the opposing action of YAN and POINTED. In addition, we report that MAE can antagonize POINTED function during eye development; a finding that suggests MAE operates as a dual positive and negative regulator of RTK-mediated signaling in vivo. Together our results lead us to propose that a combination of protein-protein and transcriptional interactions between MAE, YAN and POINTED establishes a complex regulatory circuit that ensures that both down-regulation and activation of the RTK pathway occur appropriately according to specific developmental context.

DNA-Binding Proteins↗
PubMed2004

Visual impairment in children born at full term from 1972 through 1989 in Finland.

OBJECTIVE: To investigate the incidence, prevalence, and causes of visual impairment in children born at full term and to determine conditions and factors associated with visual impairment. DESIGN: Retrospective, cross-sectional, population-based study. PARTICIPANTS: All visually impaired individuals from 0 to 17 years of age who were born at full term from 1972 through 1989 in Finland and recorded in the Finnish Register of Visual Impairment (n = 556) were eligible for this study. METHODS: Data in the Finnish Register of Visual Impairment relating to 556 subjects were supplemented with data from hospital records and other national registers (Register of Births, Register of Congenital Malformations, Finnish Care Register, and Finnish Cancer Register). Data relating to the children born at full term were compared with Finnish perinatal and vital statistics and with data concerning children born prematurely. The chi-square test (Mantel-Haenszel) and stepwise logistic regression analysis were used in statistical analysis of the data. MAIN OUTCOME MEASURES: Visual acuity, time of onset of visual impairment, ophthalmic diagnosis of visual impairment, systemic disease, multiple handicap, 5-minute Apgar score, prenatal disorders, perinatal disorders, disorders arising during infancy and childhood, and treatment. RESULTS: Four hundred thirty-one of the 556 individuals with visual impairment (78%) had been born at full term. Visual impairment was predominantly associated with genetic (53%) and prenatal (34%) factors. Ocular malformations (34%), retinal diseases (31%), and neuro-ophthalmologic disorders (26%) were the main ophthalmic diagnoses. Optic nerve atrophy (20%) and congenital cataract (13%) were the most common single diagnoses. The occurrence of blindness, systemic disease, and multiple handicap was 40%, 43%, and 45%, respectively. CONCLUSIONS: The incidence of visual impairment in children born at full term did not decline during the 2 decades covered by this study. The findings reflected the lack of treatment for genetic eye diseases. The results also confirmed an obvious need for further understanding of mechanisms underlying congenital anomalies of the human visual system.

Adolescent↗
PubMedDate not supplied

Ocular genetics: current understanding.

Over the past decade, there has been an exponential increase in our knowledge of heritable eye conditions. Coincidentally, our ability to provide accurate genetic diagnoses has allowed appropriate counseling to patients and families. A summary of our current understanding of ocular genetics will prove useful to clinicians, researchers, and students as an introduction to the subject.

Eye Abnormalities↗
PubMed2004

Xenopus MBD3 plays a crucial role in an early stage of development.

DNA methylation plays a crucial role in gene silencing via recruitment of the proteins that specifically recognize methyl-CpG. In the present study, we have shown that two splicing isoforms of MBD3, xMBD3 and xMBD3LF, are the major methyl-CpG binding proteins in Xenopus eggs and early stage embryos. They were highly expressed in the eyes and central nerve system of tadpoles. Inhibition of the expression of xMBD3 by antisense oligonucleotides severely affected embryogenesis. Low-dose injection of antisense oligonucleotides specifically affected eye formation. An identical phenotype was observed on the forced expression of xMBD3 mutated in the methyl-CpG binding domain (MBD) and xMBD3LF, those of which lack methylated DNA binding activity. On the other hand, the eye-defective phenotype was not induced on the injection of truncated forms of mutant xMBD3 or xMBD3LF that contained MBD. We propose that MBD3, distinct from the case in mouse, plays a crucial role in the recognition of methylated genes as an intrinsic component of the complex to guide the corepressor complex during an early stage of Xenopus embryogenesis.

Animals↗
PubMed2006

Sine oculis, a member of the SIX family of transcription factors, directs eye formation.

The initiation of eye formation in all seeing animals is controlled by a group of selector genes that together forms the retinal determination cascade. In Drosophila, mice and humans, loss-of-function mutations lead to defects in eye and/or head development. While ectopic expression of these genes is sufficient to direct non-retinal tissues towards an eye fate, the ability of each gene to initiate eye formation is neither unlimited nor equal. A particularly enigmatic observation has been that one member of the cascade, sine oculis (so), which is a member of the SIX family of homeobox transcription factors, is unable to initiate eye development in non-retinal tissues. It is in contrast to every other retinal determination gene including optix, another Six family member, which can induce eye formation when expressed on its own. Here we demonstrate that, in contrast to published reports, expression of so on its own is sufficient to induce eye development within non-retinal tissues. We have extended results from prior reports on binding partner selectivity and DNA binding sites by conducting a structure/function analysis of the SO and OPTIX proteins. Here we demonstrate that the SIX domains and C-terminal portions of the SO and OPTIX proteins are required for functional specificity of SIX class transcription factors while the homeodomain of these proteins are interchangeable. Taken together, these results shed new light on the role that so plays in eye specification.

Amino Acid Sequence↗
PubMed2006

Defects in eye development in transgenic mice overexpressing the heparan sulfate proteoglycan agrin.

The importance of heparan sulfate proteoglycans (HSPGs) in neurodevelopment is becoming increasingly clear. However, studies on HSPGs are hampered by pleiotropic effects when synthesis or modification of heparan sulfate itself is targeted, and by redundancy when the core proteins are altered. Gain-of-function experiments can sometimes circumvent these issues. Here we establish that transgenic mice overexpressing the HSPG agrin have severe ocular dysgenesis. The defects occur through a gain-of-function mechanism and penetrance is dependent on agrin dosage. The agrin-induced developmental defects are highly variable, and include anophthalmia, persistence of vitreous vessels, and fusion of anterior chamber structures. A frequently observed defect is an optic stalk coloboma leading to the misdifferentiation of the optic stalk as retina, which becomes continuous with the forebrain. The defects in optic-stalk differentiation correlate with reduced sonic hedgehog immunoreactivity and overexpansion of the PAX6 domain from the retina into the optic stalk. The ocular phenotypes associated with agrin overexpression are dependent on genetic background, occurring with high penetrance in inbred C57BL/6J mice. Distinct loci sensitizing C57BL/6J mice to agrin-induced dysgenesis were identified. These results indicate that agrin overexpression will provide a tool to explore the molecular interactions of the extracellular matrix and cell surface in eye development, and provide a means for identifying modifier loci that sensitize mice to developmental eye defects.

Agrin↗
PubMed1978

Square wave jerks in Friedreich's ataxia.

We observed a brother and sister with Friedreich's ataxia during steady fixation. They both had abnormal eye movements consisting of randomly occurring, small amplitude, conjugate horizontal saccades away from the fixation target. The saccades were followed by maintenance of this eccentric position for a brief period, and finally, a corrective saccade back to the original position. Electro-oculographic recordings showed these eye movements to be square wave jerks. They had an amplitude ranging from 1.5 to 10.7 degrees and a duration averaging less than 200 msec. Square wave jerks were also superimposed on pursuit movements in both patients. Square wave jerks are an additional ocular finding that may signify chronic cerebellar dysfunction. More specifically, they are an additional neuro-ophthalmological finding that may be observed in Friedreich's ataxia.

Adolescent↗
PubMed2004

PITX2 gain-of-function in Rieger syndrome eye model.

The human autosomal-dominant disorder Axenfeld-Rieger syndrome presents with defects in development of the eyes, teeth, and umbilicus. The eye manifests with iris ruptures, irido-corneal adhesions, cloudy corneas, and glaucoma. Transcription factors such as PITX2 and FOXC1 have been found to carry point mutations, causing the disorder. However, for approximately 40% of the cases, the pathogenesis is unknown. It has been reported that some mutations in PITX2 increase transactivation, whereas most mutations cause defects in DNA binding or transactivation. It is not known whether up-regulation of PITX2 activity can cause the disorder as well. Here we test this hypothesis directly by overexpressing PITX2A as a transgene in mouse corneal mesenchyme and iris, using keratocan-flanking sequences. The mice presented with corneal opacification, corneal hypertrophy, irido-corneal adhesions, and severely degenerated retina, resembling glaucoma. The corneal hypertrophy also resembles the corneal hypertrophy of Pitx2-/- mice. Control transgenic mice carrying point mutations T68P or K88E in PITX2A were normal. These findings indicate a novel pathogenetic mechanism in which excess corneal and iridal PITX2A cause glaucoma and anterior defects that closely resemble Axenfeld-Rieger syndrome.

Alleles↗
PubMed2003

Comparative expression profiling of 40 mouse cytochrome P450 genes in embryonic and adult tissues.

This study is the first systematic investigation of the gestational age-dependent and adult tissue-specific expression patterns of each known mouse CYP family (40 genes) using normalized cDNA panels and uniform reverse transcriptase polymerase chain reaction-based assays. Twenty-seven of the P450s were constitutively expressed during development. The number gradually increased through the phases of gastrulation E7 (n=14), neural patterning and somitogenesis E11 (n=17), organogenesis E15 (n=20), and fetal period E17 (n=21). Cyp2s1, Cyp8a1, Cyp20, Cyp21a1, Cyp26a1, Cyp46, and Cyp51 were detected in each of the four stages studied. Members of family CYP1 demonstrated complex, nonoverlapping embryonic patterns of expression, indicating that Cyp1a1 and Cyp1a2 may not compensate for Cyp1b1 deficiency associated with abnormal eye development. Multiple Cyp forms were found to be constitutively expressed in each of the adult tissues studied: liver (n=31), kidney (n=30), testis (n=26), lung (n=24), and heart (n=13). The tissue-specific P450-expression profiles reported in this study provide a reference for more focused analysis of the tissue-specific and developmental functions of the cytochrome P450 monooxygenases.

Aging↗
PubMed2002

Identification of a CTL4/Neu1 fusion transcript in a sialidosis patient.

The deficiency of the lysosomal neuraminidase (NEU1; sialidase) causes the storage disorder sialidosis with symptoms ranging from eye abnormalities and neurological disturbances to skeletal malformations, mental retardation and early death. Sialidosis patients encompassing a wide spectrum of clinical symptoms were screened for mutations in neu1. We identified the same homozygous interstitial deletion (11 kb) in two patients causing the fusion of exon 10 of CTL4 (New Gene 22; NG22) with the 3'-UTR of neu1. In one patient we found the resulting CTL4/Neu1 fusion transcript, in the other we detected an alternatively spliced CTL4 transcript (retention of intron 9).

Abatacept↗
PubMedDate not supplied

Long-term observation of infants with macular hemorrhage in the neonatal period.

Ten infants with macular hemorrhage in the neonatal period were tested to assess visual acuity, stereopsis, and ocular position. Contrast sensitivity was examined in three of them. The duration of hemorrhages was 1 month in four patients, 1.5 months in one patient, 2 months in two patients, 3 months in one patient, 4 months in one patient (corrected gestational 3 months), and 5 months in one patient (corrected gestational 2.5 months). None of the patients developed deprivation amblyopia or visual loss due to abnormality of macula. The results suggest that there is essentially no risk of visual deprivation for 3 months after birth. If there is any poor visual acuity, abnormal ocular position, abnormal eye movement, or poor stereopsis in the infant with neonatal macular hemorrhage, we have to elucidate the cause of the symptoms.

Child↗
PubMed1977

Solitary maxillary central incisor and short stature.

Seven patients, three males and four females, each with a single (unpaired) deciduous and permanent maxillary central incisor, were studied. All the males and two the female children were growth hormone deficient. One adult woman and a female infant with a single maxillary central incisor were short in stature but had normal growth hormone responses. No other dental anomalies or pituitary-hypothalamic dysfunctions were found. The dental anomaly was not familial. No eye abnormalitis were present in the patients or their families.

Adult↗
PubMed1983

Autosomal recessive eye and brain anomalies: Warburg syndrome.

Two siblings are reported who appear to have an autosomal recessive disorder of eye and central nervous system anomalies. The findings in fourteen previously described and similarly affected patients are summarized. Ocular anomalies include microphthalmos, megalocornea, the Peter anomaly, cataract, coloboma, persistent hyperplastic primary vitreous, and retinal detachment with retinal dysplasia. Central nervous system malformations include agyria-pachygyria, cerebellar dysplasia, encephalocele, Dandy-Walker cyst, and hydrocephalus. We suggest that this disorder be known as Warburg syndrome.

Brain↗
PubMed1999

MR imaging anatomy of the optic pathways.

Imaging in neuro-ophthalmology is a major, developing field. Visual and motor ocular symptoms and signs are of diagnostic and localizing significance, and occur frequently in patients with brain space-occupying lesions. Knowledge of the anatomy of the optic pathways extending from the retina to the calcarine fissure throughout the brain is crucial. Multiplanar high resolution MR imaging permits the physician to depict the visual path with exquisite detail. This article provides a correlative regional anatomic and imaging atlas of the brain following the optic pathways, with reference to the most accurate technical imaging procedures.

Anatomy, Artistic↗