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PubMed1992

Abnormalities of the visual system in infants exposed to cocaine.

The authors describe 13 cocaine-exposed infants with optic nerve abnormalities, delayed visual maturation, and prolonged eyelid edema. Prolonged and potentially vision-threatening eyelid edema is a new clinical entity. The pharmacology of cocaine, its easy access to fetal circulation, and its neurotropic characteristics can be used to explain optic nerve abnormalities and delayed visual maturation. In infants with any of these eye abnormalities, a careful investigation for cocaine abuse is advisable.

Abnormalities, Drug-Induced↗
PubMed2002

Evidence for an epigenetic mechanism by which Hsp90 acts as a capacitor for morphological evolution.

Morphological alterations have been shown to occur in Drosophila melanogaster when function of Hsp90 (heat shock 90-kDa protein 1alpha, encoded by Hsp83) is compromised during development. Genetic selection maintains the altered phenotypes in subsequent generations. Recent experiments have shown, however, that phenotypic variation still occurs in nearly isogenic recombinant inbred strains of Arabidopsis thaliana. Using a sensitized isogenic D. melanogaster strain, iso-Kr(If-1), we confirm this finding and present evidence supporting an epigenetic mechanism for Hsp90's capacitor function, whereby reduced activity of Hsp90 induces a heritably altered chromatin state. The altered chromatin state is evidenced by ectopic expression of the morphogen wingless in eye imaginal discs and a corresponding abnormal eye phenotype, both of which are epigenetically heritable in subsequent generations, even when function of Hsp90 is restored. Mutations in nine different genes of the trithorax group that encode chromatin-remodeling proteins also induce the abnormal phenotype. These findings suggest that Hsp90 acts as a capacitor for morphological evolution through epigenetic and genetic mechanisms.

Animals↗
PubMed1996

Three siblings with Walker-Warburg Syndrome.

The Walker-Warburg syndrome (WWS) is an autosomal recessive disease entity within the framework of "cerebro-ocular-muscular syndromes". The gene locus is still undetected. Its diagnostic criteria have been firmly established in the literature on newborns or infants affected with the disease. However, a diagnosis of severe pathologic conditions must often be made on the basis of ultrasound examination at a fetal age. It is therefore necessary to examined whether the diagnostic criteria are sufficient to warrant a diagnosis at the fetal stage. We here report on a new family affected with WWS. Two elder siblings had presented with epileptic seizures, eye abnormalities as well as multiple skeletal dysplasias (the latter finding in the first child only) in the neonatal period, and died in their first years. Postmortem examination of the second child revealed type II lissencephaly, buphthalmos, and undifferentiated retina with rigid retinal folds. Skeletal muscle tissue was not examined. In a sibling fetus, bilateral cataract was detected in the 17th gestational week by ultrasonographic examination. Postmortem examination in the 23rd gestational week revealed type II lissencephaly and bilateral cataract. Skeletal muscle was normal. Taken together, all siblings were diagnosed as Walker-Warburg syndrome. In the fetal case, prenatal diagnosis could only be made with confidence against a background of a positive family history.

Abnormalities, Multiple↗
PubMed1975

[Complex rearrangement of chromosomes 3 and 5 in an adolescent with multiple abnormalities].

Cytogenetic studies were performed on a severely mentally retarded adolescent with multiple congenital abnormalities (congenital heart disease, cryptorchidism and infantilism, rocker bottom feet and eye abnormalities). He had a complex rearrangement as a result of three breaks of chromosome 3 and two breaks of chromosome 5, and haphazard reunion of the fragments. This complex rearrangement appears balanced. The loss of very small chromosome fragments is perhaps the cause of the dysmorphia. The possibility of position effect is discussed.

Abnormalities, Multiple↗
PubMed2002

Complete overlap of PHACE syndrome and sternal malformation--vascular dysplasia association.

PHACE syndrome is the term applied to the association of posterior fossa brain abnormalities, hemangiomas, arterial anomalies in the cranial vasculature, coarctation of the aorta/cardiac defects, and eye abnormalities. An overlap with the sternal malformation/vascular dysplasia association has been described. We report an adult patient with complete manifestations of both conditions. As an adult she has demonstrated resolution of the hemangiomas and only mild intellectual difficulties.

Abnormalities, Multiple↗
PubMed1994

Lens expression of TGF alpha in transgenic mice produces two distinct eye pathologies in the absence of tumors.

Transgenic mice carrying the rat TGF alpha minigene linked to the alpha A crystallin promoter were generated to investigate the effects of expression of this growth factor in the lens of the eye. All transgenic mice exhibited eye abnormalities in the absence of overt tumors, and two distinct and heritable phenotypes were observed. Five lineages produced 'squinting' transgenic mice characterized by microphthalmic eyes with severe lens and retinal dysplasia, and four lineages produced 'bulged' transgenic mice with eyes that exhibited enlarged globes, lens epithelial hyperplasia, anterior segment dysgenesis, and in some cases retinal dysplasia. The eye perturbations of both phenotypes were evident histologically by 1 week of age, and the eyes of squinting mice were abnormal during embryonic development. The squinting phenotype was dominant over the bulged phenotype in intercrosses, suggesting that position effects from the transgene integration site resulted in differences in TGF alpha expression between the two phenotypes. In situ hybridization showed that TGF alpha transgene expression was confined to the lens or lens rudiment of all transgenic eyes despite the involvement of non-lenticular tissues in the pathology. These results show that inappropriate expression of TGF alpha in the eye can disrupt the communication required to coordinate normal eye development.

Animals↗
PubMed1994

Function of the retinoic acid receptors (RARs) during development (I). Craniofacial and skeletal abnormalities in RAR double mutants.

Numerous congenital malformations have been observed in fetuses of vitamin A-deficient (VAD) dams [Wilson, J. G., Roth, C. B., Warkany, J., (1953), Am. J. Anat. 92, 189-217]. Previous studies of retinoic acid receptor (RAR) mutant mice have not revealed any of these malformations [Li, E., Sucov, H. M., Lee, K.-F., Evans, R. M., Jaenisch, R. (1993) Proc. Natl. Acad. Sci. USA 90, 1590-1594; Lohnes, D., Kastner, P., Dierich, A., Mark, M., LeMeur, M., Chambon, P. (1993) Cell 73, 643-658; Lufkin, T., Lohnes, D., Mark, M., Dierich, A., Gorry, P., Gaub, M. P., Lemeur, M., Chambon, P. (1993) Proc. Natl. Acad. Sci. USA 90, 7225-7229; Mendelsohn, C., Mark, M., Dollé, P., Dierich, A., Gaub, M.P., Krust, A., Lampron, C., Chambon, P. (1994a) Dev. Biol. in press], suggesting either that there is a considerable functional redundancy among members of the RAR family during ontogenesis or that the RARs are not essential transducers of the retinoid signal in vivo. In order to discriminate between these possibilities, we have generated a series of RAR compound null mutants. These RAR double mutants invariably died either in utero or shortly after birth and presented a number of congenital abnormalities, which are reported in this and in the accompanying study. We describe here multiple eye abnormalities which are found in various RAR double mutant fetuses and are similar to those previously seen in VAD fetuses. Interestingly, we found further abnormalities not previously reported in VAD fetuses.(ABSTRACT TRUNCATED AT 250 WORDS)

Abnormalities, Multiple↗
PubMed2005

Early-life-stage toxicity in offspring from exposed parent medaka, Oryzias latipes, to mixtures of tributyltin and polychlorinated biphenyls.

The present study examined the effects of tributyltin (TBT), polychlorinated biphenyls (PCBs), and mixtures of both chemicals on reproduction in Japanese medaka, Oryzias latipes. For 21 d we gave groups of medaka freeze-dried brine shrimp flakes contaminated with a mixture of either 0, 1, 5, or 25 microg TBT g(-1) plus 0 or 25 .micro PCBs g(-1). We measured the fecundity and fertility of the parent fish and assessed the deformity, hatchability, time-to-hatching, and swim-up failure rate of the next generation. Fertilization success in the third week of the administration period was significantly decreased by administration of 25 microg TBT g(-1) (77%) compared with the control group (87%). Both TBT and PCBs were transferred maternally into the eggs of the next generation, causing early life-stage toxicity. Administration of 1 microg TBT g (-1) was not toxic to embryological development, but abnormal eye development (i.e., small eyes or no eyes) occurred when TBT at the same concentration was mixed with PCBs (6.4%). Administration of TBT alone significantly decreased hatchability and increased swim-up failure, and administration of PCBs alone significantly increased time-to-hatching. Statistical analysis by two-way analysis of variance detected an interaction between TBT and PCBs in these three parameters. TBT induces abnormal development of the eyes, reduced hatchability, and increased swim-up failure, whereas PCBs delay time-to-hatching. Administration of mixtures of TBT and PCBs has more adverse effects on the developmental stage of medaka than does that of each chemical alone.

Animals↗
PubMed1987

A corneal abnormality associated with trisomy 8 mosaicism syndrome.

Eye abnormalities are a significant feature of trisomy 8 mosaicism syndrome. This paper gives the first account of the specific histopathology of a corneal opacity which is characteristic of this syndrome. The importance of early recognition is stressed because of potential therapeutic visual improvement. The necessity of including mosaic trisomy 8 in the differential diagnosis of such corneal opacities is illustrated by this case.

Chromosomes, Human, Pair 8↗
PubMed1982

Intravenous indomethacin therapy in premature infants with patent ductus arteriosus. Causes of death and one-year follow-up.

Fifty-five infants participated in a double-blind study of indomethacin therapy for the closure of patent ductus arteriosus. Seventeen infants died. There was no significant difference in autopsy findings between the groups with respect to pneumonia, disseminated intravascular coagulopathy, necrotizing enterocolitis, sepsis, intraventricular hemorrhage, hydrocephalus, kernicterus, brain softening, and renal damage. For those infants who survived and returned for follow-up at approximately 1 year of age, there was no significant difference between the control (n = 17) and indomethacin (n = 13) groups with respect to physical growth, Bayley scores, respiratory infection, abnormal eye ground, neurological defects, and abnormal EEG. Four in the control group (24%) and three in the indomethacin group (23%) had moderate to severe neurological defects and/or scored less than 80 on the Bayley Mental Development Index or Psychomotor Development Index. It appeared that indomethacin therapy did not have a long-term adverse effect on premature infants.

Double-Blind Method↗
PubMed1989

Monoclonal antibody probes discriminate early and late mutant defects in development of the Drosophila retina.

Many mutations in Drosophila melanogaster affect the morphology of the adult compound eye. However, the times at which the phenotypes first become manifest in development are, in most cases, unknown; they can occur at any of a series of stages. Among mutants in which eyes appear externally similar, the developmental stage of onset of each defect may be quite different. Pattern formation in the compound eye begins during the late third larval instar in the eye imaginal disc, when a wave of morphogenesis crosses the disc from posterior to anterior. As this wave crosses the disc, there appears in its wake an array of photoreceptor neuron clusters and accessory cells that will comprise the adult ommatidia. Eye discs from 20 abnormal-eye mutants were analyzed using monoclonal antibodies that highlight various aspects of the developing array, to observe the stage at which each anomaly becomes evident. Some mutations apparently affect precursor cells, others the setting up of the pattern, others maintenance of the pattern, and still others later morphogenetic events.

Animals↗
PubMed2003

Discrete functions of TRAF1 and TRAF2 in Drosophila melanogaster mediated by c-Jun N-terminal kinase and NF-kappaB-dependent signaling pathways.

Two Drosophila tumor necrosis factor receptor-associated factors (TRAF), DTRAF1 and DTRAF2, are proposed to have similar functions with their mammalian counterparts as a signal mediator of cell surface receptors. However, their in vivo functions and related signaling pathways are not fully understood yet. Here, we show that DTRAF1 is an in vivo regulator of c-Jun N-terminal kinase (JNK) pathway in Drosophila melanogaster. Ectopic expression of DTRAF1 in the developing eye induced apoptosis, thereby causing a rough-eye phenotype. Further genetic interaction analyses revealed that the apoptosis in the eye imaginal disc and the abnormal eye morphogenesis induced by DTRAF1 are dependent on JNK and its upstream kinases, Hep and DTAK1. In support of these results, DTRAF1-null mutant showed a remarkable reduction in JNK activity with an impaired development of imaginal discs and a defective formation of photosensory neuron arrays. In contrast, DTRAF2 was demonstrated as an upstream activator of nuclear factor-kappaB (NF-kappaB). Ectopic expression of DTRAF2 induced nuclear translocation of two Drosophila NF-kappaBs, DIF and Relish, consequently activating the transcription of the antimicrobial peptide genes diptericin, diptericin-like protein, and drosomycin. Consistently, the null mutant of DTRAF2 showed immune deficiencies in which NF-kappaB nuclear translocation and antimicrobial gene transcription against microbial infection were severely impaired. Collectively, our findings demonstrate that DTRAF1 and DTRAF2 play pivotal roles in Drosophila development and innate immunity by differentially regulating the JNK- and the NF-kappaB-dependent signaling pathway, respectively.

Animals↗
PubMed1978

Opsoclonus inducing retinal detachment with a macular hole.

A 34-year-old man was admitted to the eye department because of conjugate abnormal eye movements and visual field defect of the right eye. Cerebellitis with opsoclonus and retinal detachment with a macular hole were diagnosed. Corticosteroids, diazepam and antibiotics were given. When the opsoclonus was improved, an operation for the retinal detachment was performed as usual, and the retina was reattached. We consider that the opsoclonus greatly contributed to the occurrence and development of the retinal detachment.

Adult↗
PubMed1997

[Indocyanine green choroidal angiography in macular hemorrhage of uncertain origin].

PURPOSE: To search for the underlying pathology of macular hemorrhage of uncertain origin with Fundus Fluorescein Angiography (FFA). METHODS: 18 Patients (20 eyes) were tested and analyzed using Indocyanine Green Choroidal Angiography (ICGCA). RESULTS: ICGCA clearly demonstrated the underlying pathology of macular hemorrhage as the choroidal neovascularization secondary to age-related macular degeneration (14 eyes), abnormality of retinal vascular (3 eyes) and accidental macular hemorrhage (3 eyes). CONCLUSIONS: The results showed that ICGCA is very usefull for detecting the underlying pathology of macular hemorrhage of uncertain origin.

Adolescent↗
PubMed2005

A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia.

OBJECTIVES: To describe a Brazilian family with oculodentodigital dysplasia (ODDD) and to screen for mutations in the gap junction protein alpha 1 (GJA1) gene in this family. METHODS: Twelve members of a 3-generation family with ODDD underwent screening for mutations of the GJA1 gene and a comprehensive ophthalmic examination. We defined ODDD on the basis of clinical characteristics described in this syndrome (microdontia, caries, enamel hypoplasia, thin nose, and syndactyly) and eye abnormalities such as microphthalmos, iris atrophy, and glaucoma. Direct sequencing of the GJA1 gene was performed using DNA collected from peripheral blood. A control group of 60 healthy individuals underwent evaluation by means of enzyme digestion. RESULTS: Among the 8 members of this family who were characterized as having ODDD, 2 showed chronic angle-closure glaucoma, and 1 had open-angle glaucoma. A new mutation in the GJA1 gene was identified, consisting of a change from proline to histidine at codon 59. This mutation segregated through members with the ODDD phenotype. Analysis of the control group by means of restriction fragment length polymorphism (MvaI enzyme) did not disclose this mutation. CONCLUSION: Our results demonstrate a new mutation (P59H) in the GJ1A gene, identified in a family with ODDD syndrome. Clinical Relevance The presence of different forms of glaucoma in families with ODDD may indicate a new mutation in the GJA1 gene.

Abnormalities, Multiple↗
PubMed2004

Facial hemangioma and malformation of the cortical development: a broadening of the PHACE spectrum or a new entity?

Facial hemangioma is usually isolated but its association with craniocervical arterial anomalies and structural brain malformations is well known. The acronym PHACE syndrome (posterior fossa malformation, facial hemangiomas, arterial anomalies, cardiac/aortic anomalies, and eye abnormalities) has been used to indicate that disorder in which brain anomalies are mainly represented by the Dandy-Walker malformation. We report on a 10-month-old boy affected by facial hemangioma and a complex cortical dysplasia located in the left frontal region. The lesion was characterized by a deeply infolding pachygyric cortex and a band of gray matter lining the wall of the lateral ventricle. The entire left cerebral hemisphere appeared hypoplastic. No anomalies of the posterior fossa structures or cardiac/aortic malformations were present. An overlapping clinical/pathological pattern was previously reported in another patient with facial hemangioma and cerebrovascular anomalies. These observations seem to indicate that the facial hemangiomas may be associated with disorders of the cortical development.

Abnormalities, Multiple↗
PubMed2004

Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation.

Walker-Warburg syndrome (WWS) is an autosomal recessive developmental disorder characterized by congenital muscular dystrophy, brain malformation, and structural eye abnormalities. WWS is due to defects in protein O-mannosyltransferase 1 (POMT1), which catalyzes the transfer of mannose to protein to form O-mannosyl glycans. POMT1 has been shown to require co-expression of another homologue, POMT2, to have activity. In the present study, mutations in POMT1 genes observed in patients with WWS were duplicated by site-directed mutagenesis. The mutant genes were co-expressed with POMT2 in Sf9 cells and assayed for protein O-mannosyltransferase activity. Expression of all mutant proteins was confirmed by Western blot, but the recombinant proteins did not show any protein O-mannosyltransferase activity. The results indicate that mutations in the POMT1 gene result in a defect of protein O-mannosylation in WWS patients. This may cause failure of binding between alpha-dystroglycan and laminin or other molecules in the extracellular matrix and interrupt normal muscular function and migration of neurons in developing brain.

Abnormalities, Multiple↗