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Three cases of true microcornea are presented, involving two successive generations. The possible embryological significances of the rare associated anomaly of corectopia (in two of the cases), and the so far unreported association of macular hypoplasia (in the two sibs) are discussed.
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Variation in the expressivity was studied of the gene for ocular retardation (or) in mice. It is shown that the gene or suppresses with a high expressivity the growth of the optic vesicle in homozygotes, this resulting in anophthalmia and microphthalmia with aphakia. In cases of low expressivity, the gene or inhibits the growth of retina anlage, this leading to microphthalmia with a cataract of the lens. Variation in the expressivity of the gene or is due to an influence of modifier genes.
The development of cell clones was studied in the retinal pigment epithelium of chimaeric mice or/or----AKR. The clonal analysis suggests that on the 13th day of gestation the cells in the retinal pigment epithelium are distributed almost randomly while in the adults they are grouped in small coherent clones. In the retinal pigment epithelium the AKR cell predominated over the or/or cells. The interaction of mutant and normal clones during the eye development leads, in most cases, to the normalization of eyes in chimaeras. Cases of microphthalmia and asymmetry in distribution of clones suggest irregular and random distribution of these clones in the embryo.
The dorsal lateral geniculate nucleus (dLGN) of the mouse (strain 944 with microphthalmus syndrome, P. Hertwig 1942) has been morphometrically investigated. The eyes of the gray littermates develop normally (control animals) while the white littermates show the microphthalmus syndrome (microphthalmic animals). Four male twentyone day old animals were examined. Following perfusion with formaldehyde (diluted 1:4 with H2O) Nissl stained frontal sections were used for classification of neurons. we differentiate between projection neurons (PN) (geniculo-cortical relay neurons) and interneurons (IN). We succeeded in identifying these two cell types using deimpregnated Golgi preparations (Fairén et al. 1977), which were counterstained with methylene blue (0.1%). The neuronal packing density and the ratio PN:IN were conventionally determined using 20 micron thick sections from both control and microphthalmic animals. In both cases this ratio was 12:1 (= 8% IN). Measuring fields distributed in a meander-like manner were selected for estimating the neuronal density. Measuring fields giving equal values were connected. The results show that we can distinguish between 3 regions of dLGN: lateral, medial and caudal. They differ with regard to neuronal packing density, size and structure of the PN. Using 3 micron thick Nissl stained sections from both control and microphthalmic animals the size and structure of PN were automatically determined using the picture processing device "MORPHOQUANT" VEB Carl Zeiss JENA). The distribution pattern of IN is apparently uniform. The microphthalmus syndrome produces a diminished number of pathologically changed retinal fibers. The morphometrically registered findings show that within the dLGN, of the microphthalmus mouse the neuronal packing density increased (diminution of neuropil), the size of PN decreased and their structural density increased (transneuronal dystrophy). Compared with the other parts, the medial part of the dLGN is minimally altered.
A report is given on two sisters with arhinia, hypertelorism, Peters' anomaly and deformities of the maxilla. The lacrimal sacs in both patients were extirpated because of recurrent dacryoadenitis due to bilateral aplasia of the nasolacrimal ducts. One eye showing Peters' anomaly with microphthalmus was enucleated in the elder patient 12 years ago. Differential diagnosis includes frontonasal dysplasia and the different types of holoprosencephaly-syndromes. Probably this new malformation syndrome is a recessive inherited.
The article reports on a 4-year-old girl with multiple congenital malformations. Ophthalmological examination revealed microphthalmia, bilateral colobomas of iris, leukoma of the right eye, convergent strabismus in the left eye. An oval salmon-coloured area was seen at the fundus of the left eye where the retinal vessesl proceed into the depth. There was no vascular infundibulum. A papilla-like cavity was seen at the bottom left of the coloboma (possibly a circulus zinnii, also called circulus vasculosus nervi optici, may be present). Both papillae are connected with each other by means of a vein. This patient, therefore, presented an extremely rare case of malformation with two papillae in one coloboma.
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Administered to eggs of Reptilia (Lacerta viridis and Anguis fragilis), cytosine-arabinoside induced numerous embryonic malformations, among which microphthalmia and limb deformities. On the other hand this drug delayed the retrogression of the apical ridge of the limb buds in Anguis fragilis.
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The retinogeniculate projections from the normal eye of a unilaterally microphthalmic cat are abnormal in that optic tract fibers cross laminar borders and end, inappropriately, in geniculate layers that would normally receive input from the microphthalmic eye. This congenitally induced abnormal retinogeniculate projection is quite similar to that seen in cats with one eye surgically removed shortly after birth. Although most cells are shrunken in the laminae normally innervated by the microphathalmic eye, cells in the region of the abnormal projection appear normal. The normal pattern of geniculate lamination is also disrupted in that cell-free interlaminar regions are considerably more difficult to define in the microphthalmic cat.
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