[Hereditary oculodentodigital syndrome].
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Adult↗
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Results for “Microphthalmos”
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Inheritance of microphthalmia with coloboma in the Australian shepherd dog.
Microphthalmia with coloboma behaves as an incompletely penetrant recessive trait in the merle Australian Shepherd dog. Microphthalmia and related anomalies occurred more often in merle dogs with predominate white than in merles with limited white hair coat. The study did not establish a genetic relationship between the amount of merling and microphthalmia. The inheritance of merling behaved as a dominant trait, but fewer non-merles occurred than were expected. Variations in white spotting were satisfactorily explained by several hypotheses involving 2 or 3 alleles at the S locus. Each requires some or all homozygous merles to be largely white and 1 or more of the S alleles to exhibit some extent of dominance over other alleles in the series.
Animals↗
[Genetics and latent defects in animals. Microphthalmia in sheep (author's transl)].
A sheep farmer purchased ten Texel ewes from a sheep breeder. He bought a ram from another sheep breeder. The ewes gave birth to twenty lambs. Seven lambs born of six ewes showed the features of microphthalmia. This is a simple recessive heritable defect. The buyer demanded annulment of the purchase by virtue of Section 1540 of the Civil Code. The court in Middelburg gave judgement for the plaintiff regarding the six ewes which had given birth to the lambs, showing the defect. On appeal, however, the court of justice in The Hague decided the cases in favour of the vendor, experts having defined the term 'breeding ewe' and a number of others having answered questions.
Animal Husbandry↗
Peter's anomaly with congenital aphakia.
An Inuit boy was born with microphthalmia and a central corneal opacity of the right globe. Histopathologic examination revealed a central adherent corneal leukoma (Peter's anomaly) as well as absence of the lens. We are not aware of other well documented histopathologic reports of congenital aphakia and Peter's anomaly occurring in the same eye.
Aphakia↗
[Genetics and latent defects in animals. II. Microphthalmia in sheep (author's transl)].
In this second clinical paper, the genetic features of the case of microphthalmia in sheep reported by Wagenaar is discussed in greater detail. The situation is compared with that on breeding other animal species in the Netherlands. Probability calculations based on the situation described are carried out. The replies by experts appointed by the Court of Justice are commented upon.
Animals↗
[Periodization of the postnatal proliferative activity in the rat retinal pigment epithelium detected by a method of experimental microphthalmia].
The dynamics of postnatal proliferative activity (PA) in the retinal pigment epithelium (RPE) and of its dependence on the general eye growth factor (intraocular pressure) was studied by means of 3H-thymidine autoradiography and experimental microphtalmia (lens removal from the eyes of the 1 and 4 days old rats). The regulation of RPE growth by the intraocular pressure was shown to be connected with the control of the number of cells by means of stimulation of their entry in S phase. The number of binucleated cells, formed as a result of acytokinetic mitosis, reflected the minimal number of cells proceeded through the reproduction cycle and was a weighted average, constant for each age and RPE zone. The first period of PA coincided with the most intensive growth of scleral part (2 to 5 days after birth) and was characterized by independence from the intraocular pressure and differences in PA intensity in different RPE zones (the highest in the central zone and dorsal and temporal regions of the equatorial zone). The second period (5 to 11 days) was dependent from the intraocular pressure and characterized by the levelling and decrease of PA in all RPE zones. The postnatal PA in RPE was characterized by a long G2 phase and a short G1 phase. The functional importance of PA and mass polyploidization of cells in RPE is discussed in the light of G2 phase specificity for the differentiating effect of melanotropic hormones on the pigment cells.
Animals↗
[Meyer-Schwickerath-Weyers syndrome (oculo-dento-digital syndrome)].
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Abnormalities, Multiple↗
[Severe microphthalmus with Patau's syndrome (author's transl)].
The authors describe a new-born child with Patau's syndrome in which D-trisomy was zytogenetically proved. The interest in this case is justified by the fact that an anophthalmos was suspected on clinical examination, but the histological examination showed a severe grade of bulb hypoplasia. The authors stress the significance of chromosome examination in cases of multiple congenital deformities associated with eye changes.
Chromosomes, Human, 13-15↗
Photoreceptor cells in the vitiligo mouse die by apoptosis. TRPM-2/clusterin expression is increased in the neural retina and in the retinal pigment epithelium.
PURPOSE: To determine the mechanism of photoreceptor cell death in the vitiligo mouse, a model of retinal degeneration in which the genetic defect is not retina specific but is instead caused by single point mutation in the microphthalmia (mi) gene that codes for a basic helix-loop-helix DNA transcription factor. METHODS: Detection of apoptotic cells was performed in fixed retinal tissue using the TUNEL assay in animals 1, 2, 4, 6, 8, 16, 32, 40, and 52 weeks. Electron microscopic analysis was used to confirm the morphologic hallmarks of apoptosis, and Southern blot analysis was used to detect internucleosomal DNA fragmentation. Additionally, the expression of a gene associated with apoptosis, TRPM-2/clusterin, was examined. RESULTS: At ages beyond the time of normal retinal programmed cell death, vitiligo retinas had significantly more TUNEL-positive photoreceptor cells and more photoreceptor cells with condensed chromatin than controls. DNA internucleosomal fragmentation ladders were present in vitiligo retinas even as late as 15 weeks, a time well beyond developmental apoptosis in controls. TRPM-2/clusterin mRNA levels in vitiligo neural retinas were similar to controls initially but were two times greater than controls by 12 weeks. Surprisingly, TRPM-2/clusterin mRNA levels were elevated in the retinal pigment epithelium in the mutant; the expression at one week was two times greater than normals and remained elevated for many months, even though retinal pigment epithelial cells showed no morphologic evidence of apoptosis. CONCLUSIONS: The morphologic and biochemical data suggest that photoreceptor cells die by apoptosis in vitiligo mice. The increased retinal TRPM-2/clusterin mRNA levels may be a direct response to these events. The increased expression of this gene in the retinal pigment epithelium, however, may reflect its role in tissue regression and membrane remodeling. Mechanisms by which the mi gene defect might result in the vitiligo retinopathy are proposed.
Aging↗
Aicardi's syndrome. A clinicopathological report.
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Agenesis of Corpus Callosum↗
[Joint occurrence of congenital ring constrictions and limb amputations with craniofactial dysmorphia (author's transl)].
A case of an infrequent congenital malformation, partial ring constrictions on fingers and toes and their amputation associated with cleft lip, facial cleft, microphthalmus and hydrocephalus is described. The etiology of the congenital malformation is discussed. Based on the literature, the question is put forward whether an increase in the frequency of this malformation could be connected to the more frequent use of amniocentesis.
Abnormalities, Multiple↗
Syndromal hypothalamic hamartoblastoma with holoprosencephaly sequence, microphthalmia, pulmonary malformations, radial hypoplasia and müllerian regression: further delineation of a new syndrome?
A 24-week-old fetus is described here with holoprosencephaly sequence (arhinencephaly and agenesis of the corpus callosum) associated with brain and meningeal dysplasia, microphthalmia with an ectopic pigmentary layer, hypothalamic hamartoblastoma, preaxial asymmetric limb reduction, lung hypoplasia, gastric hypoplasia, Müllerian regression, intestinal malrotation, asplenia, and normal chromosomes. The differential diagnosis includes the Cerebroacrovisceral-Early lethality (CAVE) phenotype, and the Pallister-Hall syndrome, but the anomalies best fit the severe form of microgastria-limb reduction syndrome. Together with a previous case reported by Meinecke, the pattern of anomalies appears to represent a combination of defects, related to but distinct from the microgastria-limb reduction syndrome.
Abnormalities, Multiple↗
The effects of PSK, a biological response modifier, on congenital ocular abnormalities induced by X-ray irradiation.
The antiteratogenic effects of PSK, a biological response modifier, were examined using histological and developmental analysis. The whole bodies of pregnant mice were irradiated with X-rays and injected with PSK within ten minutes after irradiation on day 7 of gestation (E7). The foetuses on E18 were examined and a high incidence of malformations were observed in X-ray irradiated embryos. Microphthalmia was the most frequent malformation. PSK administration suppressed the X-ray irradiation-induced ocular anomalies in not only the frequency, as deduced by external observation, but also in histopathological changes in the retina, lens, and cornea. In particular, the incidence of lens aplasia was significantly decreased by PSK administration. Developmental analysis using E10 and E13 embryos revealed that the decrease in the incidence of histopathological changes was first observed within 72 hours after PSK administration. In addition, X-ray irradiation-induced early foetal death (E10-13) was also suppressed by PSK administration. The possible mechanisms of the antiteratogenic effects of PSK are discussed.
Abnormalities, Radiation-Induced↗
"CHARGE" association.
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Abnormalities, Multiple↗
Characterization of M-CSF and its receptor in microphthalmic mice.
The macrophage colony-stimulating factor (M-CSF) gene expression in osteopetrotic mice (op/op) is defective due to a point-mutation in the M-CSF gene [1]. However, almost all osteopetrotic patients have been shown to have a normal or elevated circulating level of bioactive M-CSF [2]. To investigate the action of the M-CSF in mi/mi mice (microphthalmic; another osteopetrotic mouse mutant), M-CSF levels and its receptors were studied. We found that serum levels of M-CSF in mi/mi mice were not significantly different from normal control mice. The M-CSF receptor binding affinity of spleen-adherent cells was similar to that of control mice. In spleen cells from mi/mi mice, the receptor binding sites per cell (normalized to total spleen cells, M-CSF receptor positive cells, or M-CSF receptor RNA positive cells) were present in a greater number than in spleen cells from phenotypically normal siblings. Northern blot analysis showed that there is no significant difference in transcripts of the M-CSF receptor (c-fms) in the mi/mi and phenotypically normal mice. Unlike the op/op mutant, M-CSF levels, as well as the affinity and number of M-CSF receptors, do not explain the defect in osteoclastic function in the mi/mi mutation.
Animals↗
Familial nanophthalmos: management and complications.
Nanophthalmos is a rare form of congenital hypermetropia, in which, the individual is at a high risk of developing angle-closure glaucoma. We report a family of nanophthalmos affecting a brother and sister, as confirmed by biometry. Genetic analysis revealed an autosomal recessive mode of inheritance. The sister developed angle-closure glaucoma, which was refractory to medical and laser therapy. She underwent surgical interventions which resulted in complications. The clinical presentation, management, and complications encountered are discussed.
Adult↗
[CHARGE association].
BACKGROUND: The spectrum of CHARGE association includes coloboma, heart disease, choanal atresia, retarded growth and development and/or CNS anomalies, genital anomalies and/or hypogonadism and ear anomalies and/or deafness. CASE REPORT: A 4 1/2 month-old boy was admitted suffering from microphthalmia. His weight was 6 kg (-1 SD), height 60 cm (-2 SD) and his head circumference was 44 cm (+ 2 SD). He had hypotonia. Examination showed low-set ears, micrognathia, coloboma, left choanal atresia and genital hypoplasia. His heart was normal. CONCLUSION: The CHARGE association must be recognized early since it may be complicated by respiratory and feeding difficulties which can be lethal.
Choanal Atresia↗
Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation.
A 9-year-old boy with multiple abnormalities including severe bilateral microphthalmia, diaphragmatic hernia and Fallot's tetralogy is presented. He has also been shown to have an apparently balanced de novo reciprocal translocation, 46,XY,t(1;15)(q41;q21.2), which suggests that one of those breakpoints may be the locus for a gene which is important in morphogenesis.
Abnormalities, Multiple↗