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Paul Mitchell

Publications and source records attributed to Paul Mitchell.

At least 73 records · Page 4Linked to original sources
PubMed2006

Retinal autoantibody profile in early age-related macular degeneration: preliminary findings from the Blue Mountains Eye Study.

BACKGROUND: To compare the retinal autoantibody profile in individuals with and without early age-related macular degeneration (AMD) and to determine whether baseline autoantibodies are associated with progression to advanced AMD 5 and 10 years later. METHODS: Western immunoblotting was used to detect the presence of retinal autoantibodies in the baseline serum of 47 individuals with early AMD and 16 healthy controls from the Blue Mountains Eye Study. Autoantibody isotype, IgG subclass distribution and target antigens in the early AMD group were compared with the control group. The association between baseline autoantibodies and progression to advanced AMD 5 and 10 years later was evaluated using the chi-square test. RESULTS: Retinal autoantibodies were found in a higher proportion of the early AMD group compared with controls (57%vs. 25%, chi2=5.028, P=0.025). Autoantibodies targeted a range of retinal polypeptides in both AMD cases and controls. The commonest polypeptide antigens occurred between 20-35 kDa and 50-60 kDa. More than one IgG subclass was often present in participants with autoantibodies. Over a 10-year period, 11 participants (23.4%) with early AMD progressed to advanced AMD. No association was found between baseline autoantibodies and the development of advanced AMD over 10 years (chi2=0.16, Fisher's exact P=0.59). CONCLUSIONS: The retinal autoantibody profile in early AMD is complex, both in terms of antigenic targets and immunoglobulin isotypes. Detection of potential disease-associated autoantibodies will require a larger sample size and full characterization of the retinal antigens involved.

Aged↗
PubMed2006

Prevalence of low serum folate and vitamin B12 in an older Australian population.

OBJECTIVE: To examine the prevalence of low serum folate and vitamin B12, in association with elevated serum homocysteine, in a representative sample of older Australians. METHODS: During 1997-2000, 3,508 persons aged 50+ years were examined in a population-based cohort study conducted in two postcodes, west of Sydney, Australia. Of these, 2,901 participants (82.7%) provided fasting blood for estimates of serum folate, vitamin B12 and total homocysteine. RESULTS: Low serum B12 (< 185 pmol/L) was found in 22.9% of participants and low serum folate (< 6.8 nmol/L) in 2.3% of participants. Among those people with very low serum vitamin B12 (< 125 pmol/L) and low serum folate, 51% had elevated homocysteine. CONCLUSIONS: Low serum levels of vitamin B12 and elevated serum homocysteine are relatively frequent in older Australians. IMPLICATIONS: Appropriate public health action should be considered to reduce the prevalence of low serum vitamin B12 and elevated homocysteine in older Australians.

Aged↗
PubMed2006

Retinal vascular caliber and migraine: the Blue Mountains Eye Study.

OBJECTIVE: To assess whether migraine is associated with retinal microvascular caliber. BACKGROUND: Migraine is believed to be associated with vascular disease, but few studies have investigated the relationship between structural microvascular changes and migraine. DESIGN: Population-based cross-sectional study. METHODS: Participants in the Blue Mountains Eye Study follow-up (1997 to 1999, n = 2,335, aged 54+) had retinal photographs taken. A computer-assisted method was used to measure average retinal arteriolar and venular diameters and calculate the arteriole-to-venule ratio. History of migraine was recorded by interview using International Headache Society criteria (1988). RESULTS: Subjects giving a history of migraine without aura (n = 128) had narrower retinal arterioles than subjects giving a history of migraine with aura (n = 182) or subjects with no migraine history (n = 1619). After multivariate adjustment, mean retinal arteriolar diameter was 4.3 microm (95% confidence interval 0.5, 8.1) narrower in subjects reporting migraine without aura as compared to subjects with no migraine. CONCLUSIONS: Individuals with a history of migraine without aura were more likely to have slightly narrower retinal arteriolar caliber than individuals without migraine. This relationship was not present for migraine with aura. These data support the hypothesis that microvascular disease may be associated with certain types of migraine.

Aged↗
PubMed2006

Astigmatism and its components in 6-year-old children.

PURPOSE: The purpose of the present study was to report the prevalence of refractive (RA), corneal (CA), and internal astigmatism (IA) in a population of 6-year-old children; examine their variation with gender, ethnicity, and refraction; and examine the effects of gender, ethnicity, and spherical equivalent refraction on the relationship between CA and RA in this population. METHODS: The Sydney Myopia Study is a population-based survey of refraction and eye health in 6-year-old children. A random cluster design was used to recruit children from schools across Sydney, Australia, during 2003 to 2004. Data collection used a detailed questionnaire and comprehensive eye examination. Keratometric and cycloplegic autorefraction data from right eyes were analyzed. RESULTS: Of 2238 eligible children, 1765 (78.9%; 50.7% boys) had parental consent to participate. Overall prevalence of RA (> or =1.0 diopter [D]) was 4.8% (95% confidence interval [CI] 3.8%-6.1%), CA (> or =1.0 D) 27.7% (CI 23.8%-32.3%), and IA (> or =1.0 D) 21.1% (CI 19.0%-23.5%). The RA axis was fairly evenly distributed, with predominance of oblique axis (39.1%; CI 35.9%-42.6%). CA axis was mainly with the rule (75.1%; CI 72.6%-77.8%), while IA axis was mainly against the rule (76.7%; CI 74.2%-79.3%). After adjustment for multiple variables, girls had significant, marginally greater mean CA and IA than boys. East Asian and South Asian children had significantly greater prevalence and mean RA and CA than European Caucasian children. There were no significant ethnic differences of mean IA. Compared to reference (spherical equivalent [SEq] 1.01-1.50 D), mean RA and CA increased significantly with more hyperopic and more myopic refractions. Mean IA was significantly greater only for hyperopic refractions (SEq > 2.00 D). CONCLUSIONS: The prevalence of astigmatism found in this population of 6-year-old children was relatively low, and showed significant variation with ethnicity. The data suggest that emmetropization for RA occurs by a compensatory process between CA and IA.

Age Distribution↗
PubMed2006

Accommodative facility in eyes with and without myopia.

PURPOSE: To compare accommodative facility in eyes with myopia to that in eyes with emmetropia or hyperopia and to determine whether accommodative facility can be used to predict an association with myopia. METHODS: In the Sydney Myopia Study, year-1 school children (6.7 +/- 0.4 years) were assessed for accommodative facility at distance (3 m) and near (33 cm) with semiautomated flippers. Spherical equivalent refractive error (RE) was defined as myopia (< or = -0.50 D), emmetropia (> -0.50 D, but < +1.50 D), and hyperopia (> or = +1.50 D) based on postcycloplegia readings. Only right eye data were considered. Differences between groups were analyzed with the Brown-Forsythe F test after adjustment for age and gender. Multiple comparisons were adjusted with the by the Games-Howell METHOD RESULTS: Of the 1328 right eyes assessed, 20 (1.5%) eyes were myopic, 977 (73.6%) were emmetropic, and 331 (24.9%) were hyperopic. At distance, mean facility was less for myopic eyes at 5.5 +/- 2.0 cycles per minute (cpm) in comparison to 6.9 +/- 1.7 cpm for eyes with emmetropia or hyperopia (P = 0.005). Myopic eyes recorded greater positive and negative accommodative response times than did emmetropic or hyperopic eyes (P < 0.05). There were no differences among the groups in near facility. The area under the receiver operating characteristic (ROC) curve for distance facility was 0.692 (P = 0.003, 95% CI, 0.580-0.805). CONCLUSIONS: Myopic eyes have reduced accommodative facility at distance, and accommodative responsiveness to both positive and negative defocus is slow. However, accommodative facility as a test does not have sufficient power to discriminate eyes with myopia from other refractive errors.

Accommodation, Ocular↗
PubMed2006

Distribution of macular thickness by optical coherence tomography: findings from a population-based study of 6-year-old children.

PURPOSE: To study the distribution of macular thickness by ocular and demographic variables in a population-based study of young children. METHODS: The Sydney Childhood Eye Study examined 1765 6-year-old children from 34 randomly selected Sydney schools during 2003 and 2004 (78.9% response). A comprehensive eye examination included cycloplegic autorefraction and optical biometry. Fast macular thickness scans were performed over a 6-mm diameter central retinal region with optical coherence tomography. Multivariate analyses were performed. Macular thickness is presented on a modified Early Treatment Diabetic Retinopathy Study (ETDRS) macular grid, with outer radii for the central, inner, and outer macular regions being 0.5, 1.5, and 3 mm, respectively. RESULTS: In the study, 1543 children (88.7% of participants; 51.1% boys) had high-quality scan data (mean age, 6.7 years). The mean (SD) minimum foveal thickness was 161.1 (19.4) microm. The thickness of the central, inner, and outer macula was normally distributed, with means (SD) of 193.6 (17.9), 264.3 (15.2), and 236.9 (13.6) microm, respectively. Total macular volume was also normally distributed, with a mean (SD) of 6.9 (0.4) mm(3). The temporal quadrant was thinner than other quadrants for both inner and outer macular regions. The foveal minimum, central, and inner macula was generally significantly thicker in boys than in girls, and in white than in East Asian children. Outer macular thickness showed no significant gender-ethnic differences. Sectoral macular thickness variations were preserved in both gender and ethnic groups. The inner and outer macula, but not the central macula, showed significant thinning with increasing axial length. These corresponding areas were significantly thicker with more hyperopic spherical equivalent refractions. CONCLUSIONS: Macular thickness and volume were normally distributed in this young childhood population. Significant gender and ethnic differences were demonstrated. Axial length and refraction were important ocular biometric determinants of macular thickness.

Anatomy, Cross-Sectional↗
PubMed2006

Distribution of optic disc parameters measured by OCT: findings from a population-based study of 6-year-old Australian children.

PURPOSE: To study the distribution of optic disc, cup, and neural rim size by ocular and demographic variables in a population-based sample of 6-year-old children. METHODS: The Sydney Childhood Eye Study examined 1765 of 2238 eligible 6-year-old children (78.9%) from 34 randomly selected Sydney schools during 2003 to 2004. Comprehensive standardized eye examination included cycloplegic autorefraction, optical biometry and "fast optic disc" scans performed using optical coherence tomography. RESULTS: Scans of adequate quality were available for 1309 children (75% of participants), with 70% aged 6 years; 50.9% were boys. Mean (+/- SD) horizontal and vertical disc diameter and disc area was 1.53 +/- 0.21 mm, 1.79 +/- 0.28 mm, and 2.20 +/- 0.39 mm(2), respectively. Corresponding cup dimensions were 0.70 +/- 0.28 mm, 0.73 +/- 0.27 mm, and 0.48 +/- 0.32 mm(2). A definable optic cup was absent in 7.4%, 87% of whom were European white. Cup-to-disc diameter ratios were 0.46 +/- 0.16 horizontally and 0.42 +/- 0.15 vertically, whereas cup-to-disc area ratio was 0.22 +/- 0.13. Mean +/- SD neural rim area was 1.76 +/- 0.44 mm(2) and increased with disc size (Pearson correlation = 0.68, P < 0.0001). Horizontal and vertical average nerve widths were 0.36 +/- 0.05 and 0.28 +/- 0.05 mm, respectively. In analyses adjusting for potential confounders, disc area increased significantly with axial length (P(trend) < 0.0001) and refraction (P(trend) = 0.02). Rim area increased only with axial length (P(trend) = 0.01). There were no gender differences, except for average nerve width, marginally greater in boys. Most disc and cup dimensions were significantly larger in East-Asian than European white and Middle Eastern children. CONCLUSIONS: Disc, cup, and neural rim parameters were generally normally distributed in this young population. Axial length appeared to be a stronger determinant of disc and rim size than refraction. Some ethnic but not gender differences were demonstrated for most parameters.

Australia↗
PubMed2006

Variables determining perceived global health ranks: findings from a population-based study.

OBJECTIVE: To assess variables associated with different perceived global health ranks in an older population. MATERIALS AND METHODS: The Blue Mountains Eye Study was a populationbased survey of residents aged >or=49 years in an area west of Sydney, Australia. Questions relating to demographic and socioeconomic indicators, limitations of daily living activities, medical history, hearing problems, exercise, smoking and alcohol consumption were asked in a standardised questionnaire at interview. Comprehensive eye examinations were performed. Self-rated health was assessed from a standard question and categorised as excellent, good, fair or poor. Associations were assessed using logistic regression models. RESULTS: After exclusions, 714/3589 (19.9%) participants rated their health as excellent, 1969 (54.9%) as good, 766 (21.3%) as fair and 140 (3.9%) as poor. A wide array of study variables assessed showed significant associations with self-rated health. Compared with a self-ranking of good or excellent health, variables significantly associated in a multivariate model with a rank of poor health included: regular use of community support services, more than one hospital admission in the last 12 months, perceived inability to go out alone, difficulty walking, or history of angina, asthma or cancer. Variables significantly associated with a rank of fair health were broader and included socioeconomic status, sensory impairment, tinnitus, many chronic diseases and negative health behaviours, including smoking and heavy alcohol consumption. CONCLUSIONS: Our findings suggest that different sets of variables may influence people to rank their global health at different perceived levels.

Activities of Daily Living↗
PubMed2006

Are sensory and cognitive declines associated in older persons seeking aged care services? Findings from a pilot study.

INTRODUCTION: To assess the association between sensory and cognitive function, and the potential influence of visual function on cognitive function assessment, in a sample of clients accessing aged care services. MATERIALS AND METHODS: We recruited 260 non-institutionalised, frail, older individuals who sought aged care services. Visual acuity was assessed using a LogMAR chart and hearing function was measured using a portable pure-tone air conduction audiometer. Visual impairment was defined as visual acuity (VA) <6/12 (<39 letters read correctly in the better eye), moderate-to-severe hearing impairment as hearing thresholds >40 decibels (better ear) and cognitive impairment as Mini-Mental State Examination (MMSE) score <24. RESULTS: Vision and hearing assessments were randomly performed in 168 and 164 aged care clients, respectively. Visual acuity correlated weakly with MMSE scores, either including (r = 0.27, P <0.001) or excluding (r = 0.21, P = 0.006) vision-related MMSE items. After partialling out the effect of age, the association remained (r = 0.23, P = 0.013 including, or r = 0.18, P = 0.044 excluding vision-related items). No correlation was found between MMSE scores and hearing thresholds (r = -0.07, P = 0.375). After adjusting for age, sex and stroke, mean MMSE scores were lower in persons with visual impairment than those with normal vision (25.2 + 0.5 versus 26.8 + 0.4 including, or 18.2 + 0.5 versus 19.2 + 0.3 excluding vision-related items), but were similar between subjects with none or mild and those with moderate-to-severe hearing loss (26.3 + 0.4 versus 26.0 + 0.4). CONCLUSIONS: In this study sample, visual and cognitive functions were modestly associated, after excluding the influence of visual impairment on the MMSE assessment and adjusting for age. Hearing thresholds were not found to be associated with cognitive function.

Age Factors↗
PubMed2006

Utility and validity of the self-administered SF-36: findings from an older population.

INTRODUCTION: The objectives of this study were to assess the utility and validity of the self-administered SF-36 and the effect of visual or cognitive impairment on these measures in an older population. MATERIALS AND METHODS: Attempt rates, completion rates and internal consistency (Cronbach alpha) were compared within the second cross-sectional, population-based Blue Mountains Eye Study (n = 3509, mean age 66.7 years, 57% women). RESULTS: The SF-36 was attempted by 3162 (90.1%) participants, of which 2470 (78.1%) completed all items and 2873 (90.9%) completed sufficient items for calculation of all dimensions. In a multivariate model adjusting for age, sex, and presenting visual and cognitive impairments, women (P = 0.011) and participants with visual or cognitive impairments (P < 0.0001) were less likely to attempt the questionnaire. Completion rates were significantly lower with increasing age (P < 0.0001), in men (P < or = 0.0005) and in those with cognitive impairment (P < 0.0001). A high level of internal consistency (Cronbach alpha > 0.85 for all dimensions) and construct validity was demonstrated, the latter distinguishing between those with and without medical conditions, disabilities or recent hospital admissions (P < 0.01). As the prevalence of visual or cognitive impairment was relatively low in this population, we found no apparent effect of these impairments on the validity of SF-36. CONCLUSIONS: Attempt and completion rates, but not internal consistency and construct validity, of the SF-36 were influenced by age, gender, and presenting visual and cognitive impairments. The overall high attempt and completion rates, internal consistency and construct validity suggest that the self-administered SF-36 is a suitable healthrelated quality of life (HRQOL) measure in similar older community-living populations.

Aged↗
PubMed2005

A health policy for hearing impairment in older Australians: what should it include?

BACKGROUND: As in all western countries, Australia's older population experiences high levels of hearing impairment coupled with relatively low levels of hearing device usage. Poor hearing diminishes the quality of life of affected individuals and their families. This paper discusses how to improve Australian hearing health policies in order to better combat this impairment amongst older Australians. METHOD: We searched the databases Medline, Meditext and Web of Science to find articles that discussed strategies and innovations to assist the hearing health of older people, and related this material to observations made during the Blue Mountains Hearing Study in NSW between 1997 and 2003. RESULTS AND DISCUSSION: The literature search identified five areas for inclusion in a comprehensive hearing health policy in Australia. These are: early intervention; addressing of hearing aid expense; the use of assisted listening devices; hearing rehabilitation, and; screening and education. Further research in Australia is critical if we are to develop a strong approach to the increasing prevalence of age-related hearing loss. CONCLUSION: Australia needs to act now to address hearing impairment as it is a major cause of disability in those aged 55 and over. Federal and State governments should collaborate to construct a comprehensive hearing health policy that tackles poor levels of hearing health through early intervention, addressing hearing aid expense, encouraging the use of assisted listening devices, rehabilitation, screening and education. A good start would be to declare age related hearing impairment as a National Health Priority Area.

Journal Article↗
PubMed2005

Low hemoglobin, chronic kidney disease, and risk for coronary heart disease-related death: the Blue Mountains Eye Study.

A recent report found that chronic kidney disease (CKD) increased the risk for coronary heart disease (CHD) events in people with anemia but not in those without anemia. This study aimed to verify these findings in the Blue Mountains Eye Study cohort, a prospective Australian population-based study of 3654 residents aged 49 to 97 yr. Fasting blood samples were obtained at baseline and confirmed CHD-related deaths over 9 yr with the Australian National Death Index. "Low hemoglobin" was defined as levels in the lowest quintile of the cohort. Body surface area-adjusted GFR was estimated using a variety of methods (Cockcroft-Gault, abbreviated Modification of Diet in Renal Disease, and Bjornsson equations). People with CKD (GFR <60 ml/min per 1.73 m2 as estimated using the Cockcroft-Gault equation) and low hemoglobin (mean 13.2 g/dl; range 7.6 to 14.6 g/dl) had an increased risk for CHD-related death (multivariable-adjusted hazard risk ratio 1.49; 95% confidence interval 1.08 to 2.06) compared with people with CKD but in higher hemoglobin quintiles. This effect was not evident in people without CKD. The interaction between GFR and hemoglobin was significant (P = 0.05) when GFR was estimated using either the Cockcroft-Gault or Bjornsson equations or when serum creatinine instead of GFR was used in the analyses but not when GFR was estimated using the abbreviated Modification of Diet in Renal Disease equation. In conclusion, this study found that low hemoglobin, even within the normal range, together with CKD increased the risk for CHD-related death.

Aged↗
PubMed2005

Vision loss in Australia.

OBJECTIVE: To assess the prevalence and causes of vision loss in Australia and to project these data into the future. DESIGN: Synthesis of data from two cross-sectional population-based cohort studies--the Melbourne Visual Impairment Project and the Blue Mountains Eye Study--and extrapolation to the entire Australian population. SETTING AND PARTICIPANTS: 8376 community and 533 nursing home residents recruited between 1992 and 1996 in urban and rural Victoria and New South Wales. MAIN OUTCOME MEASURES: Age-standardised prevalence of low vision (visual acuity < 6/12) and blindness (visual acuity < 6/60) (both measured in the best eye, with spectacles if usually worn for distance vision), and their causes for the Australian population for 2000 to 2024, projected from Australian Bureau of Statistics population data. RESULTS: In 2004, 480,300 Australians were estimated to have low vision, including 50,600 with blindness. The most common causes of low vision were undercorrected refractive error (62%), cataract (14%) and age-related macular degeneration (10%). The latter was responsible for almost half of all cases of blindness. The numbers of people with low vision and blindness are projected to almost double by 2024. CONCLUSIONS: Vision loss in Australia is a much bigger problem than is usually recognised; 76% of low vision is caused by uncorrected refractive error or cataract, both readily treatable. However, the prevention and treatment of macular degeneration poses a major challenge.

Adult↗
PubMed2005

Positron emission tomography with selected mediastinoscopy compared to routine mediastinoscopy offers cost and clinical outcome benefits for pre-operative staging of non-small cell lung cancer.

PURPOSE: (18)F-fluorodeoxyglucose positron emission tomography (FDG-PET) imaging is an important staging procedure in patients with non-small cell lung cancer (NSCLC). We aimed to demonstrate, through a decision tree model and the incorporation of real costs of each component, that routine FDG-PET imaging as a prelude to curative surgery will reduce requirements for routine mediastinoscopy and overall hospital costs. METHODS: A decision tree model comparing routine whole-body FDG-PET imaging to routine staging mediastinoscopy was used, with baseline variables of sensitivity, specificity and prevalence of non-operable and metastatic disease obtained from institutional data and a literature review. Costings for hospital admissions for mediastinoscopy and thoracotomy of actual patients with NSCLC were determined. The overall and average cost of managing patients was then calculated over a range of FDG-PET costs to derive projected cost savings to the community. RESULTS: The prevalence of histologically proven mediastinal involvement in patients with NSCLC presenting for surgical assessment at our institution is 20%, and the prevalence of distant metastatic disease is 6%. Based on literature review, the pooled sensitivity and specificity of FDG-PET for detection of mediastinal spread are 84% and 89% respectively, and for mediastinoscopy, 81% and 100%. The average cost of mediastinoscopy for NSCLC in our institution is 4,160 AUD, while that of thoracotomy is 15,642 AUD. The cost of an FDG-PET scan is estimated to be 1,500 AUD. Using these figures and the decision tree model, the average cost saving is 2,128 AUDper patient. CONCLUSION: Routine FDG-PET scanning with selective mediastinoscopy will save 2,128 AUD per patient and will potentially reduce inappropriate surgery. These cost savings remain robust over a wide range of disease prevalence and FDG-PET costs.

Adult↗
PubMed2005

Homocysteine and retinal vein occlusion: a population-based study.

PURPOSE: To report population data on the association between homocysteinemia and retinal vein occlusion (RVO). DESIGN: Cross-sectional, population-based study. METHODS: Total serum homocysteine (tHcy) was estimated in subjects attending the second Blue Mountains Eye Study (BMES) (n = 3509, aged >49 years). Its association with RVO (graded from retinal photographs) was examined. RESULTS: Homocysteine was more strongly associated with RVO in younger than older participants. In those aged <70 years, homocysteine levels >15 micromol/l were associated with increased odds of RVO, odds ratio (OR) 3.76; 95% confidence interval (CI) 1.06-13.40, in multivariable-adjusted analyses. Each 1 micromol/l increase in homocysteine was associated with a 7% increased odds of RVO, OR 1.07; CI 0.99-1.17 (P = .08). CONCLUSION: This population-based study showed that elevated serum homocysteine is associated with the presence of RVO, independent of other risk factors.

Aged↗
PubMed2005

Pterygium/pinguecula and the five-year incidence of age-related maculopathy.

PURPOSE: To assess the relationship between baseline pterygium and pinguecula and the five-year incidence of age-related maculopathy (ARM). DESIGN: Population-based longitudinal study. METHODS: The Blue Mountains Eye Study examined 3654 residents aged 49+ years during 1992 to 1994 and then re-examined 2335 (75.1% of survivors) after five years. Retinal photographs were graded using the Wisconsin Age-Related Maculopathy Grading System. Slit-lamp examination recorded pterygium and pinguecula. Eye-specific data were analyzed using generalized estimating equation models. RESULTS: After adjusting for age, gender, and smoking, eyes with pterygium or previous pterygium surgery had a higher risk of incident late ARM, odds ratio (OR) 3.3, 95% confidence interval (CI) 1.1 to 10.3, early ARM (OR 1.8, CI 1.1 to 2.9) and soft drusen (OR 2.0, CI 1.9 to 3.4), than eyes without pterygium. We found no association between pinguecula and incident ARM. CONCLUSIONS: This study found that pterygium was associated with a two- to threefold increased risk of incident late and early ARM.

Conjunctival Diseases↗
PubMed2005

The Q368STOP myocilin mutation in a population-based cohort: the Blue Mountains Eye Study.

PURPOSE: To investigate the prevalence of the Q368STOP myocilin mutation in a population-based cohort: the Blue Mountains Eye Study (BMES). DESIGN: Population-based study. METHODS: DNA was extracted from 2,142 individuals collected through the BMES, including 31 individuals with glaucoma. All individuals were screened for the presence of the Q368STOP mutation of myocilin. Genotyping of the microsatellite markers My5, My3, D1S2815, and D1S1619 was also undertaken. RESULTS: None of the 31 open-angle glaucoma-positive individuals presented with the Q368STOP mutation. However, two individuals (aged 56 and 72) with no clinical signs of OAG, were identified with this mutation. Allele sharing at the four microsatellite markers defining the Q368STOP disease haplotype for OAG was found in these two individuals. CONCLUSIONS: The Q368STOP myocilin mutation occurs at a low prevalence (0.09%) in a general, older population.

Aged↗