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[Use of standardized forms of mass-produced eye prostheses].
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Iris nevus syndrome.
We present a case of iris-nevus or Cogan-Reese syndrome with its characteristic pathological findings. Although a rare entity, it should be considered in the differential diagnosis of heterochromia associated with elevated intra-ocular pressure. To avoid unnecessary enucleation, it should not be confused with diffuse iris melanoma.
Mild osteopetrosis in the microphthalmia-oak ridge mouse. A model for intermediate autosomal recessive osteopetrosis in humans.
Mutations at the mouse microphthalmia (mi) locus affect coat color, eye development, and mast cells. The original allele, mi, also shows severe osteopetrosis. Mice homozygous for the microphthalmia-Oak Ridge (Mior) mutation are white, microphthalmic animals with retarded incisor development. To investigate whether this mutation causes osteopetrosis, we examined skeletal tissues of the Mior mouse. A typical osteopetrotic lesion, accumulation of unresorbed primary spongiosa, was found at the metaphyses of long bones and at the costochondral junctions in Mior/Mior mice from 10 days to 37 days of age, whereas no accumulation was seen at the mid-diaphyses in these bones. The osteopetrotic conditions of Mior/Mior mice increased progressively during the first 5 weeks after birth. However, adult Mior/Mior mice 3 months or older showed improvement of the osteopetrotic condition, although the disease was not completely resolved. Ultrastructurally, osteoclasts of Mior/Mior mice had well developed ruffled borders. These results show that the Mior mutation has milder osteopetrotic changes than the original mi mutation, a surprising observation given that both mutations affect the same functional domain of the mi protein, a basic-Helix-Loop-Helix-Zipper transcription factor. The Mior phenotype resembles the intermediate autosomal recessive osteopetrosis in humans.
[Preparation and primary genetic analysis of Drosophila melanogaster transformants line w'lz(b)/XXywf, containing mini-white genes, integrated in the genome during P-element-dependent transformation].
Transformation of Drosophila melanogaster using P-element-based vectors yielded 129 sublines, which carried mini-white gene copies in the different genome regions. Dependence of mini-white gene expression on the location, gene dosage, and sex of the transformed individuals was analyzed. The mutation lzb was shown to suppress mini-white gene expression, the degree of suppression depending on the location and dosage of the mini-white gene.
TESS line: a laboratory line of the musk shrew (Suncus murinus, Insectivora), triple-homozygous for the curly hair (ch), cream coat-color (cr) and red-eyed dilution (rd) genes and segregating the sucrase deficients (suc/suc).
The TESS line, the first tester line of the Suncus has been developed. The TESS shrews are homozygous for three morphological mutant genes, ch, cr and rd. The gene (suc) for sucrase activity deficiency in intestinal brush-border membranes also exists in the line, and its frequency was 34.3%. The deficients could easily be identified by the drastic body-weight losing up to more than 15% of the initial weight, that aroused two days after replacement of the drinking water for its 10%-sucrose solution. The TESS shrews have been maintained as a closed-colony consisting of more than 30 individuals, and will be utilized in linkage analysis with the four loci (ch, cr, rd and suc).
A case-control study of malignant melanoma of the trunk among white males in upstate New York.
To address the increase in the incidence of cutaneous melanoma in upstate New York in recent decades, a case-control study was conducted of the constitutional and environmental risk factors for malignant melanoma of the trunk among white males. Cases were identified from the New York Cancer Registry from 1977 through 1979 (the period of the greatest relative increase in incidence), and controls were selected using random digit dialing methods. A total of 324 cases or their next-of-kin and 415 controls were interviewed regarding physical and sociodemographic characteristics, lifestyle habits, and medical histories. The following variables were statistically significant in the final logistic regression analysis: birthmarks (O.R. = 3.87); sunburn easily (O.R. = 1.83); fair skin tone (O.R. = 1.63); northern European ancestry (O.R. = 1.51); blue eye color (O.R. = 1.46); and participation in water sports (O.R. = 2.02). Interaction terms between constitutional and environmental variables resulted in a significant relationship between the presence of freckles and bathing two or more times per day. Among freckled individuals, those who bathed more than once per day had a sixfold elevation in the risk compared to those who bathed less often. In comparison, the odds ratio for frequent bathing among men without freckles was only 1.24. The data suggest the following hypothesis for further study: the possibility that frequent bathing may be deleterious, especially among freckled individuals or those with pigmented nevi.
The refractive index and protein distribution in the blue eye trevally lens.
BACKGROUND: The relationship between structure (crystallin distribution) and function (refractive index) in the lens is not understood and can be studied by comparing biochemical and optical properties. Such a comparison has been made using a blue eyed trevally lens. METHODS: The optical parameter of refractive index distribution was determined using a nondestructive ray tracing technique. The distributions of the various classes of proteins in the lens were determined by dissolving lenses in concentric layers and using biochemical protein assay. HPLC and SDS-PAGE electrophoresis were used to investigate the proportion of proteins in each layer. RESULTS: The refractive index distribution, from center to edge, follows a second order polynomial. The proteins do not vary in their proportions over most of the lens; only in the inner-most regions is there a rapid increase in insoluble protein and a concomitant decrease in the soluble protein classes. The smallest proteins (gamma crystallins) become insoluble later than the alpha- and beta-crystallins. CONCLUSIONS: There are no similarities in the distributions of any of the protein classes to that of the refractive index in the fish lens. This result indicates that a quantitative relationship cannot be derived by comparing protein to refractive index distributions. However, the findings are consistent with those made in other species: a high content of gamma-crystallins is always found in lenses which have steep refractive index gradients and high index magnitudes.
The Chediak-Higashi syndrome of cats.
Initial clinical, genetic, cytochemical and ultrastructural studies have characterized the Chediak-Higashi syndrome in cats. Three cats with Chediak-Higashi syndrome were found in a single line of 27 Persian cats, and three additional affected cats were produced from two prospective breedings of the original line. The disorder was characterized genetically as an autosomal recessive condition. All cats in the line with the combination of yellow eye color and "blue smoke" hair color exhibited the disorder. Four of the five cats examined had bilateral nuclear cataracts as early in life as 3 months of age. No increased susceptibility to infectious disease was observed. A bleeding tendency was noted. Abnormally large eosinophilic, sudanophilic, peroxidase-containing granules were observed in the neutrophils of the granulocytic series of blood and bone marrow by electron and light microscopy. Granules of eosinophils and basophils were also enlarged. Light microscopic studies of hair and skin revealed enlarged melanin granules. These manifestations were similar to those in man, mink, cattle, mice, and the killer whale with Chediak-Higashi syndrome. Cats are the sixth species in which this genetic disease has been reported.
Cosmetic conformers.
The loss of an eye is an emotionally traumatic event. A prosthetic eye is usually not fitted until the socket has healed (about 6 weeks after surgery). This period, during which a clear conformer is fitted, can be particularly traumatic, especially for the newly anophthalmic patient. The authors have designed interim acrylic prosthetic conformers to help patients overcome some of these problems while preserving the necessary characteristics of ideal postoperative conformers.
Influence of special-effect contact lenses (Crazy Lenses) on visual function.
PURPOSE: Special-effect contact lenses (opaque, tinted soft contact lenses that incorporate decorative images such as "cateyes," stars, or hearts to alter eye color and structure) have become increasingly popular. The purpose of this study was to investigate whether such lenses impair visual function. METHODS: A clear soft contact lens and a special-effect soft contact lens (Crazy lens,) were fit in changing sequence in nine healthy subjects. The parameters studied included: visual acuity, contrast sensitivity (with and without glare), visual field, and mesopic vision (with and without glare). RESULTS: The following parameters displayed a statistically significant difference (P < 0.05). Visual acuity was decreased to 0.9 +/- 0.23 in the Crazy lens group as compared with 1.2 +/- 0.13 in the clear lens group. Goldmann visual field displayed a significant constriction of the isopters: III/4, I/4, and I/3. Mesopic vision without glare was reduced from 1:2.5 to 1:7.4. Contrast sensitivity was significantly reduced in a photopic condition with and without glare and in a scotopic condition without glare. Furthermore, the special-effect lenses were associated with a decrease in lens wearing comfort. CONCLUSIONS: Special-effect contact lenses were associated with a reduction of many visual functions, including visual acuity and contrast sensitivity. For some wearers this may interfere with activities where excellent vision is crucial, such as driving a car.
The eye and collagen in osteogenesis imperfecta.
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White-ivory assay of Drosophila melanogaster under deficient repair conditions.
The prediction ability of a test to detect genotoxic activity may be increased, at least from a theoretical point of view, by carrying it out under deficient repair conditions. The white-ivory (w[i]) assay of Drosophila melanogaster is a somatic mutation and recombination test (SMART) that essentially differs from other SMARTs by the endpoints that can be detected. In this article, we study the consequences, with the w(i) assay, of the introduction of two mutations, mus201 and mei-41, which produce deficiency in two different repair mechanisms: the nucleotide excision repair system and in a G2/M cell-cycle checkpoint, respectively. Ten chemicals, previously classified as positive in the w(i) assay, have been assayed in both deficient repair conditions. As in the w/w+ and mwh/flr3 SMARTs, the results obtained with the w(i) assay show that the use of deficient repair strains does not improve the detection of genotoxic effects. However, the utilization of these deficient repair strains has been shown to be a useful tool in mechanistic studies. In fact, it seems that the nucleotide excision repair system mainly eliminates some spontaneous and chemically-induced damages involved in the reversion of w(i), whereas the repair system deficient in mei-41 flies is partly necessary to recover revertant w(i) spots.
(-)Eburnamonine in vascular lesions of the fundus of the eye (with 1 color plate).
Using photographs of the fundus of the eye after injection of fluorescein and treatment by (-)eburnamonine the authors show the vasodilatation effect of the drug and the unquestionable appearance of circulation flow in the right middle nasal artery which was previously reduced to a silver thread-like aspect.
Color Doppler ultrasonography of the eye and orbit.
Color Doppler imaging is the recent development in ultrasonography that allows simultaneous two-dimensional structural imaging in Doppler evaluation of blood flow. With this technique, it is possible for the first time to indirectly display the fine orbital vessels such as the ophthalmic artery and its branches, the central retinal artery, the posterior ciliary artery, and the lacrimal artery. Also, the display of venous structures such as the superior ophthalmic vein, the vortex vein, and the central retinal vein is possible. In addition to the qualitative display of those vessels, the hemodynamics in those vessels can be quantitatively assessed by looking at the Doppler spectrum and determining flow velocities during various periods of the cardiac cycle. This technique is now being used in ophthalmology to evaluate orbital tumors and vascular lesions, intraocular tumors, carotid-cavernous-sinus-fistulas, and hemodynamic changes in patients with retinal vascular disease such as central retinal artery occlusion, central retinal vein occlusion, and diabetic retinopathy.
[A new therapeutic method for eye erosions by colored pencil alkalies].
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Stereoscopic color photographs of the eye.
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COLOR SENSITIVITY OF EYES WITH SQUINT AMBLYOPIA.
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