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At least 1,279 records · Page 71Linked to original sources
PubMed2000

Factors affecting pupil size after dilatation: the Twin Eye Study.

BACKGROUND/AIMS: Well dilated pupils make eye surgery easier. A classic twin study was established to examine the relative importance of genes and environment in the variance of pupil size after mydriasis, and to examine the effects of other factors such as age, iris colour, and refractive error. METHODS: 506 twin pairs, 226 monozygotic (MZ) and 280 dizygotic (DZ), aged 49-79 (mean age 62.2 years, SD 5.7) were examined. Dilated pupil size was measured using a standardised grid superimposed over digital retroillumination images taken 50-70 minutes after mydriasis using tropicamide 1% and phenylephrine 10%. Univariate maximum likelihood model fitting was used to estimate genetic and environmental variance components. RESULTS: Dilated pupil size was more highly correlated in MZ compared with DZ twins (intraclass correlation coefficients 0.82 and 0.39 respectively). A model specifying additive genetic and unique environmental factors showed the best fit to the data, yielding a heritability of 78-80%. Individual environmental factors explained 18-19% of the variance in this population. Age only accounted for 2-3% of the variance and refractive error and iris colour did not significantly contribute to the variance. CONCLUSIONS: Pupil size after mydriasis is largely genetically determined, with a heritability of up to 80%.

Aged↗
PubMed2002

Incidence of iris colour change in latanoprost treated eyes.

AIMS: To determine the incidence of increased iris pigmentation in eyes treated with chronic latanoprost. This is an observational, cohort study. METHODS: The anterior segments of both eyes of 43 patients with glaucoma were photographed after unilateral latanoprost therapy. Two independent, masked observers analysed the slides of both eyes of the study participants, and compared the iris pigmentation of both eyes of each patient using a stereo viewer. RESULTS: 30 patients (69.7%) had a definite acquired iridial anisochromia; 15 patients (50%) had increased superficial iris pigmentation with a "granular" appearance (type 1 change), and 15 patients (50%) had an increased "stromal pigmentation"-that is, the affected iris appeared darker than the fellow eye, but without a "granular" appearance (type 2 change). CONCLUSION: The incidence of increased iris pigmentation induced by latanoprost is much higher than previously reported. The high prevalence of mixed iris colour found in this population and the fact that the patients studied were undergoing unilateral therapy may explain these results.

Adult↗
PubMed2003

Comparison of iridial pigmentation between latanoprost and isopropyl unoprostone: a long term prospective comparative study.

AIM: To compare incidence of iridial pigmentation prospectively induced by long term treatment with latanoprost and isopropyl unoprostone (hereafter, unoprostone) in Japanese patients with glaucoma. METHODS: Patients with glaucoma treated with prostaglandin (PG) related ophthalmic solutions were sequentially enrolled. Patients treated for more than 30 months with PG related ophthalmic solutions were subjected to analysis. The entry criteria were no history of intraocular surgery, laser iridotomy, and/or laser trabeculoplasty within 12 months before and after the enrolment; and no history of uveitis; no changes in antiglaucoma drugs within 6 months before and after the enrolment. Photographs of the irides were taken under the same conditions and three glaucoma specialists evaluated the iridial pigmentation with masking of patient information. The correlation of iridial pigmentation with the background factors and the reduction of intraocular pressure (IOP) before and after the treatment were investigated. RESULTS: 48 eyes in 48 patients satisfied the enrolment criteria (25 eyes in the latanoprost group, 23 eyes in the unoprostone group). At the end of the follow up period, iridial pigmentation was present in 15 patients (60.0%) in the latanoprost group and seven patients (30.4%) in the unoprostone group. The correlation between development of iridial pigmentation and age, sex, concurrent use of other ophthalmic solutions, and IOP reduction was not significant. CONCLUSIONS: The incidence of iridial pigmentation induced by latanoprost or unoprostone is high in the case of long term treatment. Iridial pigmentation did not affect PG related ophthalmic solution induced IOP reduction.

Adult↗
PubMed2004

Association between choroidal pigmentation and posterior uveal melanoma in a white population.

BACKGROUND/AIMS: It is well known that light skin pigmentation is a risk factor for cutaneous melanoma. The aim of this study was to investigate the analogous association between choroidal pigmentation and posterior uveal melanoma. METHODS: Cross sectional study of 65 consecutive patients diagnosed with posterior uveal melanoma (melanoma group) and 218 consecutive patients referred for general retinal evaluation (control group). All patients were white. A clinical grading system for estimating choroidal pigmentation was developed and histologically validated in seven patients. RESULTS: Melanoma patients with light iris colour were significantly more likely to have darker choroidal pigmentation than controls (p = 0.005). Darker choroidal pigmentation was associated histologically with increased density of choroidal melanocytes (p = 0.005). CONCLUSIONS: Increased choroidal pigmentation, as a result of an increase in the density of pigmented choroidal melanocytes, is not protective but may actually be a risk factor for the development of posterior uveal melanoma in white patients. This finding may have implications for understanding the pathogenesis of uveal melanoma.

Adult↗
PubMed1984

Pigmentation and skin reaction to sun as risk factors for cutaneous melanoma: Western Canada Melanoma Study.

Between 1 April 1979 and 31 March 1981, 904 residents of the four western provinces of Canada (population 6.5 million), were diagnosed as suffering from primary cutaneous malignant melanoma. Of 801 patients aged 20-79 years, 665 (83%) were interviewed along with control subjects chosen at random from the general population and matched for age, sex, and province. After exclusion of 70 subjects with lentigo maligna or acral lentiginous melanoma, comparisons of the 595 case-control pairs showed that light hair, skin, and eye colour, a history of heavy freckling in adolescence, and a tendency to burn readily and tan poorly in the sun were significant risk factors for melanoma. The strongest primary associations were with blond hair (relative risk 7.1 compared with black hair), light colour of unexposed skin (relative risk 2.4), and severe freckling (relative risk 2.1). These associations were independent of ethnic origin and of recorded amount of exposure to the sun and were somewhat stronger for superficial spreading than for nodular melanoma. This study is the largest and most detailed of an incident series of melanomas to be published to date. The results were consistent with other studies reporting associations between melanoma and poor tanning ability, a tendency to burn easily, and a history of sunburn and showed that light hair colour was the strongest risk factor for the disease.

Adult↗
PubMed1987

Relation between phenotype and banal melanocytic naevi.

In a study of risk factors for the development of melanocytic naevi in relation to the pathogenesis of malignant melanoma 197 white adults were examined by four dermatologists and naevus counts correlated with several other features. Highly significant associations were found between large numbers of banal acquired melanocytic naevi and the ability to tan easily without burning (skin types 3 and 4; relative risk 4.6), brown or hazel eyes (relative risk 3.5), green or grey eyes (relative risk 3.5) and brown or black hair (relative risk 3.7). No significant associations with numbers of naevi were shown for parity or use of oral contraceptives or other steroid hormones. This is the first study to find any relation between melanocytic naevi and phenotypic factors in a white population.

Adolescent↗
PubMed1988

Visual evoked potentials in Negro carriers of the gene for tyrosinase positive oculocutaneous albinism.

Visual evoked potential testing was performed on 15 Negro carriers of the gene for tyrosinase positive oculocutaneous albinism in order to detect whether they have the same visual pathway decussation anomalies as do homozygotes. No subject showed 01-02 asymmetry on monocular testing, indicating that decussation follows the normal pattern. It is concluded that visual evoked potential testing is probably not useful in the detection of Negroes heterozygous for the gene for tyrosinase positive oculocutaneous albinism.

Adolescent↗
PubMed1997

Waardenburg syndrome.

Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene. Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are homozygotes. Type IV WS (Shah-Waardenburg syndrome with Hirschsprung disease) can be caused by mutations in the genes for endothelin-3 or one of its receptors, EDNRB. Type II WS is a heterogeneous group, about 15% of whom are heterozygous for mutations in the MITF (microphthalmia associated transcription factor) gene. All these forms show marked variability even within families, and at present it is not possible to predict the severity, even when a mutation is detected. Characterising the genes is helping to unravel important developmental pathways in the neural crest and its derivatives.

Endothelin-3↗
PubMed2003

Different patterns of gene silencing in position-effect variegation.

Position-effect variegation (PEV) results when a fully functional gene is moved from its normal position to a position near to a broken heterochromatic-euchromatic boundary. In this new position, the gene, while remaining unaltered at the DNA level, is transcriptionally silenced in some cells but active in others, producing a diagnostic mosaic phenotype. Many variegating stocks show phenotypic instability, in that the level of variegation is dramatically different in different isolates or when out crossed. To test if this phenotypic instability was due to segregation of spontaneously accumulated mutations that suppress variegation, four different and well-characterized strains showing PEV for the white+ gene (wm4, wmMc, wm51b, and wmJ) and representing both large and small spot variegators were repeatedly out crossed to a strain free of modifiers, and the phenotypes of these variegators were monitored for 30 generations. Once free of modifiers, these variegating strains were then allowed to reaccumulate modifiers. The spontaneous suppressors of variegation were found to include both dominant and recessive, autosomal and X-linked alleles selected to reduce the detrimental effects of silencing white+ and adjacent genes. The time of peak sensitivity to temperature during development was also determined for these four variegators. Although large and small spot variegators have previously been attributed to early and late silencing events, respectively, the variegators we examined all shared a common early period of peak sensitivity to temperature. Once free of their variegation suppressors, the different variegating strains showed considerable differences in the frequency of inactivation at a cellular level (the number of cells showing silencing of a given gene) and the extent of variegation within the cell (the number of silenced genes). These results suggest that large and small spot variegation may be a superficial consequence of spontaneous variegation suppressors. The nature and number of these spontaneous variegation suppressors depends on the number of genes silenced in a given variegating rearrangement. These results are interpreted in the context of a model that proposes that the different underlying patterns of gene silencing seen in PEV can be attributed directly to the formation of heterochromatin domains possessing different properties of propagation during cell division.

Animals↗
PubMed1990

Genetic location and biochemical characterization of eye-colour mutants from natural populations of Drosophila melanogaster.

From six captures of Drosophila melanogaster carried out in three different habitats (cellar, vineyard, and pinewood) in two different seasons of the year (spring and autumn), 60 eye-colour mutations were isolated, which were reduced to 29 loci by means of allelism tests within and between populations. Forty-five of these mutations were analyzed genetically and biochemically; of these 33 turned out to be previously described mutants and mapped to a total of 17 loci. Twelve new mutants were discovered and they mapped to 12 new loci, distributed on chromosome X, II, and III. The eye-colour mutants show large effects on the red and brown pigments. The high variability of the eye-colour loci is discussed in relation to the mutation and selection hypotheses.

Alleles↗
PubMed1990

Identifying a single-copy DNA sequence associated with the expression of a heterochromatic gene, the light locus of Drosophila melanogaster.

Although little is known about the molecular organization of most genes within heterochromatin, the unusual properties of these chromosomal regions suggest that genes therein may be organized and expressed very differently from those in euchromatin. We report here the cloning, by P transposon tagging, of sequences associated with the expression of the light locus, an essential gene found in the heterochromatin of chromosome 2 of Drosophila melanogaster. We conclude that this DNA is either a segment of the light locus, or a closely linked, heterochromatic sequence affecting its expression. While other functional DNA sequences previously described in heterochromatin have been repetitive, light gene function may be associated, at least in part, with single-copy DNA. This conclusion is based upon analysis of DNA from mutations and reversions induced by P transposable elements. The cloned region is unusual in that this single-copy DNA is embedded within middle-repetitive sequences. The in situ hybridization experiments also show that, unlike most other sequences in heterochromatin, this light-associated DNA evidently replicates in polytene chromosomes, but its diffuse hybridization signal may suggest an unusual chromosomal organization.

Alleles↗