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Results for “MICROPHTHALMOS”

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PubMed1991

Histological examination of chick embryos with bilateral microphthalmus with reference to laterality in the visual apparatuses.

The histological abnormalities of chick embryos with bilateral microphthalmus were examined in serial paraffin sections with special reference to laterality in the visual apparatuses, including the cornea, lens, neural retina and pigment epithelium. There was marked laterality in the above structures; some eyeballs had individual, if incomplete, sublayers of the cornea and the neural retina, and others not. The sublayers of the neural retina were occasionally observed even in eyeballs at the stage of optic vesicle formation, in contrast to the previous notion that the pigment epithelium induces the maturation of the primordial neural retina after optic vesicle differentiation into the optic cup. There was also a case where developmental differences between the right and left eyeballs were absent except in the lens. These findings suggest that chick embryos with bilateral microphthalmus exhibit a more complex histological profile or diversity than previously considered, possibly as a result of the differential actions of various mutagens and endogenous trophic factors on the developing visual system.

Animals↗
PubMed1981

Microcephaly, mental retardation and chromosomal aberrations in a girl following radiation therapy during late fetal life.

A human foetus was heavily irradiated in the thirtieth to the thirty-third week due to carcinoma of the uterine cervix of the mother. Irradiation after 20 weeks of pregnancy is thought not to produce severe abnormalities. However, the child showed microcephaly, mental retardation, stunted growth, microphthalmus, retinal degeneration, cataract and defective dentition. Cytogenetically the frequencies of both chromatid and chromosome breaks were increased.

Abnormalities, Multiple↗
PubMed1990

Anophthalmia in a retarded girl with partial trisomy 4p and 22 following a maternal translocation, rcp(4;22)(p15.2;q11.2).

An 18-year-old girl displayed left anophthalmia and right severe microphthalmia, mild dysmorphic features of facies and distal limbs, a right preauricular pit, and moderate mental retardation. She was trisomic for the distal part of the short arm of chromosome 4 and the proximal segment of chromosome 22, due to unbalanced 3:1 segregation of a maternal 4;22-translocation. Anophthalmia is a rare finding in chromosome aberrations in general, and particularly in patients not featuring other severe malformations and severe to profound mental retardation.

Adult↗
PubMed1990

The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome.

We have seen a Yemenite sister and brother with cutaneous hypomelanotic and pigmented spots and patches, microcornea, coloboma, severe hearing loss and normal karyotypes. Histopathological examinations of the skin showed absent melanocytes in the depigmented areas; in the normal and hyperpigmented skin there was abundant melanotic pigment. Similar patients have not been described previously, but there are corresponding mutations in mice and rats.

Abnormalities, Multiple↗
PubMed1993

Ocular growth in infant aphakia. Bilateral versus unilateral congenital cataracts.

In a prospective study the changes in the ocular axial lengths and in the overall refractions were examined in cases of unilateral and bilateral congenital cataract requiring surgery during the first year of life. Measurements were taken on 18 children with unilateral and on 20 children with bilateral congenital cataract at the time of surgery and up to eight years postoperatively. Surgery was performed via a pars plana/plicata approach, and all infants were fitted with contact lenses. In cases of unilateral cataract, the ocular axial length tended to be superior to the age-matched values already prior to surgery. After four to eight years, one third of the eyes were clearly above normal. In cases of bilateral cataract, the axial lengths were reduced at the age of surgery in the majority of cases, and particularly in eyes that required surgery during the first six months of life. The curvatures of the contact lenses tended to remain unchanged in bilateral cataract, and decreased by about 0.7 mm in unilateral cases. This also reflects the high degree of microphthalmia in bilateral cases. After four to eight years, the degree of microphthalmia had usually increased. The overall refraction decreased significantly in unilateral and bilateral cataract during the first four years of life. The mean values were higher in bilateral than in unilateral cataract at all ages. The mean decrease was 15 diopters in unilateral cataract (SD +/- 5.5 dpt), and 10 diopters in bilateral cataract (SD +/- 6 dpt). When correlating the age-matched differences in the ocular axial lengths at the time of surgery with the overall refractions after four to eight years, a good correlation was found in the unilateral cases (eight eyes), and a poor correlation in the bilateral cases (24 eyes). The data indicate that intraocular implants should not be used in bilateral cataract requiring surgery during the first year of life as long as there is no possibility to change their refraction while in place. In unilateral cases, a relatively accurate prediction appears possible in a small number of eight eyes. However, an additional important correction with glasses would be needed before reaching the final refraction resulting in a high degree of aniseiconia, and eliminating the chances for binocular vision that are small anyway. Furthermore, data from other authors would indicate that the change in refraction may be much more important than expected when using intraocular implants in unilateral congenital cataract requiring surgery during the first year of life.(ABSTRACT TRUNCATED AT 400 WORDS)

Aphakia, Postcataract↗
PubMed1997

Focal dermal hypoplasia (Goltz's syndrome).

A 17-year-old female with Goltz's syndrome was examined because of visual acuity loss in her right eye. Ocular examination revealed microcornea, iris, choroid and optic disc coloboma in the right eye. There were several erthematous and hyperpigmented areas on the body. Magnetic resonance (MR) imaging of the orbits and brain demonstrated right optic nerve hypoplasia and diffuse cortical and cerebellar atrophy. Skeletal manifestations were short stature, scoliosis, syndactyly, clinodactyly, and osteopathia striata. Dental defects included hypodontia, developmental defects, and malocclusion. There were multiple papillomatous lesions on the lids and perioral skin and the nose was asymmetric. Her mental development was apparently normal. She had left bifid ureter and renal pelvis, scant hair on the pubic and genital region, and poor breast development. Histopathologic examination of the biopsy taken from a characteristic skin lesion revealed attenuated epidermis, hypoplastic dermis, and subcutaneous fat close to epidermis. Immunofluorescence staining was negative for IgG, IgM, IgA, C3, C4, fibrin, and albumin. Ultrastructural examination showed that no viral particles were present. Prometaphase chromosome analysis revealed a normal 46, XX female karyotype. Cortical and cerebellar atrophy can occur in a patient with Goltz's syndrome.

Abnormalities, Multiple↗
PubMed1989

Pulmonary agenesis association with nonimmune hydrops.

Bilateral pulmonary agenesis is a rare malformation with 13 cases previously reported. To our knowledge, none of these cases have been associated with hydrops fetalis. We report a 36 weeks, hydropic female infant (46XX) with bilateral pulmonary agenesis, unilateral microophthalmia, and bilateral renal dysplasia. These eye and pulmonary findings have now been associated several times and may constitute a new syndrome. Ultrasound examination before delivery showed polyhydramnios and fetal hydrops. At autopsy the heart was structurally normal, aside from absent pulmonary connections. The ductus arteriosus was partially closed. This was felt to be etiologic in the hydrops. As the source of the amniotic fluid here could not be urine or pulmonary secretions, direct fluid transfer from fetal vasculature or skin was the likely origin.

Abnormalities, Multiple↗
PubMed1975

Teratogenic effects of cyclopamine and jervine in rats, mice and hamsters.

Golden hamster fetuses were extremely sensitive to the teratogenic action of jervine and cyclopamine, the steroidal alkaloid tetratogens from Veratrum californicum. Cebocephaly, harelip/cleft palate, exencephaly, and a cranial bled were the common deformities produced by dosing on the seventh day of gestation. Sprague-Dawley derived albino rats were susceptible to cyclopamine but not to jervine, and at an incidence very much lower than that of hamsters. Cebocephaly and microphthalmia were the common deformities. The terata were observed as a consequence of sixth to ninth-day dosings. Single-day dosings produced no terata. Swiss Webster mice were apparently resistant to the teratogens.

Animals↗
PubMed1992

Effects of H-2 and vitamin A on eye defects in congenic mice.

Pregnant mice congenic with C57BL/10 (B10.A, B10.BR, B10.D2, B10.A(2R), B10.A(5R), B10.A(15R), B10.A(1R), B10.A(18R), and B10.OL) were fed Purina Mouse Chow or the same diet plus 200 IU of vitamin A daily. The pregnant dams were sacrificed on the 18th day of gestation and the fetuses were sexed and examined for defects in eye development. It was found that the frequency of microphthalmia and anophthalmia in the female progeny of mice fed Mouse Chow was 7.4-9.2% in B10.A and B10.BR, 4.0-5.5% in B10.A(18R), B10, B10.A(5R), B10.A(1R), B10.A(15R), and B10.A(2R), and 0.8% and 1.4% in B10.D2 and B10.OL mice, respectively. On average, the frequency of these defects in the female progeny was 6.2 times greater than that in males (P less than 0.001). The right eye was 5.8 times more often affected than the left (P less than 0.001). The addition of vitamin A to the diet increased the frequency of these eye abnormalities in all strains, suggesting that this effect is not mediated by loci associated with H-2, as is the case with vitamin A-enhanced cleft palate. The addition of vitamin A to the diet did not affect the ratios of affected males to females, affected right to left eye, or microphthalmia to anophthalmia. The results suggest that there are two loci on chromosome 17, one centromeric to E beta and one telemeric to C4, that interact to determine to some degree the frequency of microphthalmia and anophthalmia.

Animals↗
PubMed1997

Macrophage function in mice with a mutation at the microphthalmia (mi) locus.

Microphthalmic (mi/mi) mice are unpigmented, osteopetrotic, mast cell deficient, and exhibit diminished gastric acid secretion and natural killer cell activity. In order to assess the effect of this mutation on macrophage function, we studied superoxide (O2-) and nitric oxide (NO) production, superoxide dismutase (SOD) activity, phagocytic capacity, and tumor cell killing by peritoneal macrophages from mi/mi mice and normal (+/+) litter mates. Macrophages from mi/mi mice, upon activation with phorbol myristate acetate (PMA), generated significantly higher amounts of O2- than did macrophages from their +/+ litter mates. The phagocyte respiratory burst as assessed by nitroblue tetrazolium (NBT) reduction assay also displayed a 2-fold enhancement in mi/mi macrophages. The assay of SOD activity revealed significantly lower levels in mi/mi macrophages than in the wild type. Furthermore, in comparison with controls, macrophages from mi/mi mice demonstrated significantly higher levels of NO production and increased capacity to lyse tumor cells upon activation with lipopolysaccharide (LPS) or gamma-interferon (IFN-gamma). The mi mutation, therefore, is associated with reduced macrophage SOD activity, increased O2- and NO production, and enhanced capacity for tumor cell killing. The molecular mechanisms for these changes have not been identified.

Animals↗
PubMed2001

Five cases of microphthalmia with other ocular malformations.

We report five cases of complex microphthalmia with other ocular malformations in infants or children, which were evaluated to investigate the relationship between the corneal diameters and total axial length. The size of the globe was measured by using computerized tomographic scans (CT scan), A-scan ultrasonography, or magnetic resonance imaging (MRI). There is a limited range of well-described malformation, including anterior or posterior segment dysgenesis or combined pathology such as corneal opacity, small cornea, iris hypoplasia, lens dislocation, cataract, chorioretinal coloboma, persistent hyperplastic primary vitreous (PHPV), retinal dysplasia, and intraocular tumor. Corneal diameters were correlated significantly with total axial length (r2 = 0.88) and decreased linearly as the total axial length decreased in these cases. However, there was no relationship seen between the total axial length and posterior segment length (r2 = -0.06). The results of this study may aid the clinical ophthalmologist to accurately understand or assess microphthamia combined with other ocular malformations.

Abnormalities, Multiple↗
PubMed2006

Two cases of uveal effusion syndrome.

PURPOSE: To report a case of uveal effusion syndrome associated with hypotony and a case of uveal effusion syndrome in nanophthalmos. METHODS: The first case was a 25-year-old man who presented with decreased visual acuity in the left eye and hypotony. Fundus examination revealed choroidal effusion and retinal detachment with a thickened eyeball. Partial thickness sclerotomy and sclerectomy were performed. The second case was a 13-year-old boy who had uveal effusion syndrome with a nanophthalmic eye. RESULTS: In the patient with hypotony, intraocular pressure was well maintained following partial thickness sclerotomy and sclerectomy, and choroidal effusion and retinal detachment were reduced. The visual acuity of the nanophthalmic patient was well maintained during a 3-year follow-up period without treatment. CONCLUSIONS: appropriate treatment modalities should be considered depending on the ophthalmic condition of the individual patient.

Adolescent↗