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A highly inbred kinship is described, in which 19 individuals were afflicted with bilateral profound microphthalmia without associated anomalies and with normal intelligence. Autosomal recessive inheritance is demonstrated. This kindred is instructive for genetic counseling since the affected individuals always have bilateral microphthalmia in the absence of other affected organ systems.
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The histological development of the teeth of mice homozygous for the osteopetrotic mutation microphthalmia (mi) in the mouse is described for the period 1-20 days post partum. The abnormalities described, including overall retardation, impaired root formation, encapsulation by bone and consequent non-eruption, are discussed and compared to the defects seen in the grey lethal (gl) mouse.
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Insertions of chromosomal material which are due to 3 breaks are rare events. In this observation a segment of the long arm of chromosome 1q31-41 was shifted to 1p31.3 on the short arm and after recombination had caused trisomy of this segment in 2 cases. Main phenotypical feature is colobomatous microphthalmia. Other traits in which both patients differ considerably are non specific. Any correlation between duplications of the long arm of chromosome 1 and phenotypical expression has not yet been recognized.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
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Microphthalmia, congenital cataracts, posterior lenticonus, and retinal dysplasia were observed in members of 3 litters of Akita puppies thought to be related to a common male ancestor. The electroretinograms of 3 clinically affected puppies were normal. Histological examination of 6 microphthalmic animals revealed nuclear and cortical cataract with multiple retinal folds and rosettes predominantly overlying the tapetum lucidum. Posterior lenticonus was observed histologically in 3 of the 6 puppies.
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In the pathology of malformations it is only in very few cases possible to identify a complete syndromal picture; the authors present some multimalformative syndromes, observed in the past few years at the Department of Pediatric Ophthalmology of the University of Siena. The ocular findings are reported and discussed in relation with the general features in order to make a correct diagnosis.
This paper describes the analysis of the fetal eye in utero using ultrasonography. Such analysis has allowed the diagnosis of two cases of cyclopia and one case of microphthalmia. Two of the three pregnancies of a woman affected by autosomal dominant aniridia were found to be normal at 17 weeks of gestation and at birth; her oldest daughter was affected. The motility of the eyes was also noted when the fetus was examined. No movement or rapid and slow movements are seen more frequently as the fetus progresses through pregnancy. The centiles for the intermalar and interethmoidal distances are described for fetuses between weeks 10 and 40 of gestation. This system should be used with caution because of the difficulties in interpreting views of the fetal eye.
The eye is a mirror that reflects pathologic changes occurring in many organs. The present paper presents eye changes in renal disease including hereditary progressive nephritis, cystic disease of the kidney, cystinosis, and diffuse mesangial sclerosis. It also touches on these changes in some syndromes with major renal involvement.
Analysis of ocular retardation (or) and fidget (fi) genes expression in 18 day old embryos, 10 and 20 day old or/or C/C----+/+ c/c and fi/fi or/or C/C----+/+ +/+ c/c mice has shown that genes or and fi are active in developing retina and suppress cell proliferation. Structural defects of retina and decrease in the eye size in the chimaeras, compared to the normal embryos, were observed already in the presence of 13-16% of mutant cells. As the fraction of mutant cells increased, the degree of eye disturbances increased as well. In the fi/fi or/or----+/+ +/+ chimaeras structural defects of retina and decrease in the eye size are more pronounced than in the or/or----+/+ chimaeras, due to the synergetical effect of both mutant genes in the fi/fi or/or cell clones. In the ontogenesis of the or/or----+/+ chimaeras the development of the retinal photoreceptor layer is normalized due to the substitution of mutant cells for actively proliferating normal cells. No metabolic cooperation between the mutant and normal cells was observed in the developing retina of chimaeras.