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A study of 17 cases of Fuchs's heterochromia. Among these patients 10 had chorioretinal scar. In 3 cases the disease was seen after chronic cyclitis in a case after traumatism. Fuchs's heterochromia seems be in almost all cases a secondary disease. We do not know how a primary ocular disease can lead to Fuchs's syndrome. it is possible that this mechanism is autoimmune.
PURPOSE: To study the risk of adverse events in transpupillary thermotherapy (TTT) for age-related macular degeneration by measuring how laser-induced retinal temperature increase is affected experimentally by subretinal blood, choroidal blood flow, and chorioretinal pigmentation. METHODS: An ultrafine thermocouple technique was developed to measure retinal temperature increase during TTT in albino and pigmented rabbit eyes. TTT was performed with 60-second, 0.78-mm spot size, 810-nm infrared diode laser exposures with power settings ranging from 50 to 950 mW. Intraretinal and subretinal temperature increases were measured in pigmented and albino rabbits, with or without subretinal blood and choroidal blood flow. RESULTS: Threshold power settings for visible lesions in albino and pigmented rabbits were 950 and 90 mW, respectively, corresponding to retinal temperature increases of 11.8 degrees C and 5.28 degrees C, respectively. Power settings required to produce threshold lesions in albino rabbits caused retinal temperature increases in pigmented rabbits that were five times higher than in the albino rabbits. Temperature increases in albino rabbits were 1.5 times higher with subretinal blood than without it. Choroidal blood flow generally did not affect measured retinal temperature increases. CONCLUSIONS: The results confirm prior theoretical recommendations that clinicians should consider decreasing TTT power settings in darkly pigmented eyes and proceed with caution in those with subretinal hemorrhage or pigment clumping.
The effect of the ganglioside GM1 on autotomy, a nociceptive behavioral marker for neuropathic pain, and substance P depletion was determined in a rat model of peripheral mononeuropathy, sciatic cryoneurolysis (SCN). SCN is produced by the application of a cryoprobe to the common sciatic nerve using a freeze-thaw-freeze cycle. Due to structural sparing of the nerve, regenerative processes are not precluded. After this peripheral nerve insult, behavioral and neurochemical changes occur that support the use of SCN as a neuropathic pain model. These changes include: autotomy with coincident transient weight loss and paling of eye color suggestive of increased sympathetic activity, spontaneous nociceptive behaviors, touch-evoked allodynia, prolonged mechanical allodynia, ipsilateral decrease of immunoreactive substance P, and increases in spinal cord dynorphin expression. Incidence and severity of autotomy were assessed after the intraperitoneal administration of GM1 (1, 10, and 20 mg/kg) or saline injected daily for 2 days before SCN, the day of surgery, and for 14 days after surgery. In a subset of two rats from each treatment group, transcardiac perfusion was performed and spinal cords were processed for substance P immunoreactivity. GM1 at 10 and 20 mg/kg doses significantly attenuated autotomy as compared with saline-treated rats (P = 0.007 and 0.0001, respectively). However, GM1, at the doses studied, failed to alter the spinal substance P depletion 21 days after SCN. These results indicate that the ganglioside GM1 may have a role in the clinical management of neuropathic pain after peripheral nerve injury.
We describe a collection of P-element insertions that have considerable utility for generating custom chromosomal aberrations in Drosophila melanogaster. We have mobilized a pair of engineered P elements, p[RS3] and p[RS5], to collect 3243 lines unambiguously mapped to the Drosophila genome sequence. The collection contains, on average, an element every 35 kb. We demonstrate the utility of the collection for generating custom chromosomal deletions that have their end points mapped, with base-pair resolution, to the genome sequence. The collection was generated in an isogenic strain, thus affording a uniform background for screens where sensitivity to genetic background is high. The entire collection, along with a computational and genetic toolbox for designing and generating custom deletions, is publicly available. Using the collection it is theoretically possible to generate >12,000 deletions between 1 bp and 1 Mb in size by simple eye color selection. In addition, a further 37,000 deletions, selectable by molecular screening, may be generated. We are now using the collection to generate a second-generation deficiency kit that is precisely mapped to the genome sequence.
Position effects can complicate transgene analyses. This is especially true when comparing transgenes that have inserted randomly into different genomic positions and are therefore subject to varying position effects. Here, we introduce a method for the precise targeting of transgenic constructs to predetermined genomic sites in Drosophila using the C31 integrase system in conjunction with recombinase-mediated cassette exchange (RMCE). We demonstrate the feasibility of this system using two donor cassettes, one carrying the yellow gene and the other carrying GFP. At all four genomic sites tested, we observed exchange of donor cassettes with an integrated target cassette carrying the mini-white gene. Furthermore, because RMCE-mediated integration of the donor cassette is necessarily accompanied by loss of the target cassette, we were able to identify integrants simply by the loss of mini-white eye color. Importantly, this feature of the technology will permit integration of unmarked constructs into Drosophila, even those lacking functional genes. Thus, C31 integrase-mediated RMCE should greatly facilitate transgene analysis as well as permit new experimental designs.
In a laboratory olfactometer, 12% of female Aedes aegypti with a marker gene for red eye (re), 0.7% of females with a marker gene for white eye (we), and 54.1% of females with normal (norm) eye color were attracted to odor from a human hand. When a synthetic attractant blend was used in place of the hand, the attraction rate was 7%, 0.3%, and 35.4%, respectively. On average, re females required significantly less time (76.8 sec) than we (189.6 sec) or norm (176.7 sec) females to locate, land on, and probe human skin but no difference was found between mosquito strains in the time required for females to bloodfeed to repletion on a restrained guinea pig. Differences among mosquito strains in the repellency of 15% diethyltoluamide (deet), 6.65% deet, and 10% citronella were not significant.
The knowledge of sunlight effects on the eyes and protective behaviors was assessed in the general community of Brisbane, Australia. Five hundred people were systematically sampled and surveyed via a telephone questionnaire. Of the participants, 279 (56%) were female and 258 (52%) were aged 40 years or less. Levels of knowledge were found to be lower in the older subjects, those with dark complexions and outdoor workers. Most were unaware of specific ultraviolet light related eye diseases such as cataract, pterygium and eye cancer. Three hundred and ninety (78%) wore sunglasses > 10% of the time while outdoors during the day; the most common reasons for wearing included protection from glare in 254 (65%) and driving in 60 (15%). Ninety-six (19%) never wore sunglasses, the most common reasons being inconvenience in 16 (17%), thought unnecessary in 16 (17%) and uncomfortable in 13 (14%). Promotion of sun protection to prevent ultraviolet light related diseases should include information on the eye. This information is important for establishing preventative behaviors and the selection of optimal eye protective measures.
The human mind was engaged with fundamental questions on the nature of heredity long before the study of genetics became a scientific discipline. Many traits, such as height, eye color, blood pressure, or cancer susceptibility, have been known to run in families, although the genes or combination of genes that underlie these observable characteristics remain unknown in most cases. Differences in susceptibility to environmental agents in humans are likewise determined by variations in genetic background--genetic polymorphisms. In this article, we review the current status of studies on human polymorphisms in drug-metabolizing enzymes and discuss various approaches to the analysis of genetic polymorphisms. We expect that in the near future, novel methods in genetic analysis of human populations will be likely to play a key role in the identification of genes of toxicological relevance.
Patients with Angelman's syndrome have been reported to have ocular hypopigmentation and a number are now known to have a microdeletion of chromosome 15q 11----13. Detailed ocular examination of eight new cases revealed normal visual acuity and foveal reflexes, but a pigmentary deficiency which is limited to the choroid and iris stroma--both of neural crest origin. Patients with Prader-Willi syndrome have similar ocular features and many have a microdeletion of chromosome 15q 11----13. It is therefore possible that this region may influence neural crest development.
A case of Chediak-Higashi syndrome diagnosed by its characteristic ocular findings is described. The appearance of the optic disc and the contrast between total (or nearly total) lack of pigment in the pigment epithelium and the relatively unaffected choroidal pigmentation are believed to be observations of paramount importance in the differential diagnosis by ophthalmoscopic examination. Electrophysiological tests of our case showed abnormal responses and a further deterioration of the ERG and VEP on repeated examinations. Electron microscopic study of a conjunctival biopsy revealed the presence of pathognomonic giant intracytoplasmic lysosomal granules in stromal fibroblasts and, thus, can be used as an adjunct test in suspected cases of Chediak-Higashi syndrome.
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The garnet gene was one of the first genes to be identified in Drosophila melanogaster. Mutations in the garnet gene affect both of the biochemically distinct types of pigments in the eye and disrupt pigmentation of other organs. As an initial step in the analysis of this gene, we have analyzed the pigmentation defects in several of the garnet alleles. We have also cloned the gene and examined its expression in various tissues and at different stages of development. The garnet gene is expressed throughout development and in all tissues examined. Structurally related sequences can be detected in a variety of other eukaryotes. The predicted protein sequence of the garnet product resembles clathrin and nonclathrin adaptin proteins and is highly similar to the delta subunit of the newly isolated mammalian AP-3 adaptin complex, which is associated with the trans-Golgi network and endosomes. This suggests that garnet encodes a protein that acts in the intracellular sorting and trafficking of vesicles from the trans-Golgi network to endosomes, and related specialized organelles such as the pigment granule. This finding provides an explanation for the phenotype of garnet mutations and predicts that other Drosophila eye-colour genes will be a rich resource for the genetic dissection of intracellular vesicle transport.
We propose a new approach to the quantitative determination of the iris colour through the spectroradiometric measurement of a set of 72 artificial irises under controlled illumination and geometry. The spread of these samples in the CIELAB colour space indicates no clearly distinguished groups within the set analysed. Colour measurements for different points of these irises and for the overall irises (pupil and specular image of the light source included) are well correlated. Complementary colour measurements were also performed for the irises of 25 ocular prostheses and 40 real observers. All these colour measurements appear to be quite consistent, the average standard deviation of any of the three a*, b*, L* co-ordinates being lower than 1.0 units. In a visual experiment where 11 normal observers matched the 25 ocular prostheses using the 72 artificial irises, the results indicate that a simple criterion based on the lowest colour-difference agreed with the observers' judgements in only 18% of the cases. This result suggests that, although colour appears to be a major parameter in the overall characterization of the human iris, additional factors such as patterns or textures should also be considered.
OBJECTIVE: To determine whether 3 months of topical latanoprost treatment caused proliferative or degenerative effects on the peripheral iris of patients with glaucoma. METHODS: Seventeen patients requiring filtering surgery for primary open-angle glaucoma or pseudoexfoliation glaucoma were randomized to receive topical latanoprost for 3 months (n = 8) or alternative medication (n = 9) before surgery. A trabeculectomy and a peripheral iridectomy specimen was obtained from each patient during surgery. The tissue was subjected to histological and immunohistochemical evaluation using 2 cell cycle markers: proliferating cell nuclear antigen and nuclear-associated protein (Ki-67). RESULTS: No degenerative or pathological changes were seen in the latanoprost-treated irides, including the one specimen in this series in which there was an eye color change. Proliferating cell nuclear antigen and nuclear-associated protein markers were negative for changes in all the test specimens. CONCLUSION: Short-term treatment with latanoprost does not produce morphological changes or cellular proliferation changes in the iris.
OBJECTIVE: To study the physiognomic preferences of Israeli Jewish recipients of donor insemination. STUDY DESIGN: Donors were "scaled" by both their general popularity and their popularity among single women and married recipients. Following this procedure, the donors' physiognomic features were analyzed and interpreted in terms of Israel's sociopolitical system and the influences of the media. RESULTS: The preferred donor was an educated Ashkenazi Jew who was about 180 cm tall and weighed 72 kg, with straight, light-brown hair and light-colored eyes. This profile deviates from the average features of Israeli men, who are significantly shorter and heavier. The recipients' preferences were noticeably homogeneous, with relatively minor differences between Oriental and Ashkenazi recipients. CONCLUSION: The recipients' preferences reproduce Israel's class system, in which the Ashkenazi section is dominant. They also are influenced by the media and adopt prevailing body images.
The causes of hypo- and hyperchromic heterochromia were analysed in 94 patients. The hypochromic forms were the commonest, especially the Fuchs-Herrenschwandt heterochromia, and heterochromia simplex. Also after degenerative diseases and accidents appears almost exclusively hypochromic heterochromia. Causes of hyperchromic heterochromia (siderosis, melanosis, wart-iris) were in the minority. Finally a heterogenous group of pseudoheterochromiae were more closely examined. This group seemed to be mainly hypochromic but in 2 rare cases the pseudoheterochromia was cuased by a brown dystrophy of the repeatedly inflamed cornea, probably associated with repeated fluorescien-staining of large corneal erosions.
Cutaneous melanoma incidence rates are rapidly increasing worldwide, including in the Mediterranean countries. Sunlight exposure has been associated with melanoma, but the mechanisms of UV radiation-induced carcinogenesis is still largely unknown. In mammalian cells, UV radiation induces DNA damage that can be repaired mostly by the nucleotide excision repair system. We summarize here the results of a case-control study conducted at the Bufalini Hospital in Cesena, Italy to assess host and environmental risk factors for melanoma. We recruited 183 incident cutaneous melanoma cases and 179 controls selected predominantly among partners or close friends of the cases. Presence of dysplasticlatypical nevi (OR: 4.2; 95% CI: 2.4-7.4), low propensity to tan (OR: 2.4; 95% CI 1.1-5.0), light skin (OR: 4.1; 95% CI: 1.4-12.1), and light eye color (OR: 2.4; 95% CI: 1.1-5.2) were the strongest risk factors for melanoma in this population. A chart identifying melanoma risk associated with multiple combinations of these factors is presented. We used the host-cell reactivation assay on subjects' lymphocytes to measure individual DNA repair capacity (DRC) after UV-induced DNA damage. Subjects with low tanning ability and low DRC had a higher melanoma risk (OR: 8.6; 95% CI: 2.7-27.5) than those with higher tanning ability and high DRC. Subjects with dysplastic nevi and low DRC had a higher risk (OR: 6.7; 95% CI: 2.4-18.6) than those lacking dysplastic nevi and with high DRC. These results may help identify high-risk subjects in the Mediterranean populations who would the benefit from preventive measures.
The eye color mutant prune (pn) of Drosophila melanogaster shows a lethal interaction with the Killer-of-prune (K-pn) allele of the abnormal wing disc (awd) locus. The awd gene is the Drosophila homologue of the mammalian tumor metastasis gene nm23, and it has been postulated that pn encodes a protein with similarity to a GAP, a GTPase-activating protein. Such GAPs potentially control Ras-like proteins, which are important molecular switches. However, there is only a low sequence homology with the genes for human GAP and neurofibromatosis (NF1), and with yeast IRA1 and IRA2, and there is no evidence for the functional significance of this homologization. I now show that pn mutations lower the concentrations of larval pteridines, and that this phenomenon is enhanced by two orders of magnitude by the lethal interaction between pn and awdK-pn. These gradual effects on the pteridin concentrations indicate a corresponding drop of the pools of free GTP, and favor the involvement of GTP-binding proteins. In addition, cytology reveals a considerable hypertrophy of the neuroglia and the perineurium of the larval brain. Furthermore, the lymph glands of the larvae are highly abnormal and form melanotic (pseudo)tumors upon ageing of the larvae. These pseudotumors consist predominantly of lamellocytes which are part of the cellular defence system of Drosophila. These observations most likely indicate hyperactivity of a Ras-like protein which becomes manifest in cell types equivalent to the cell types affected by human neurofibromatosis (NF1). Thus, it is very suggestive to regard the synthetic lethal system prune/Killer-of-prune as the Drosophila model for human neurofibromatosis.