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Open Angle Glaucoma (open + angle_glaucoma)
Kinds of Open Angle Glaucoma Terms modified by Open Angle Glaucoma Selected AbstractsNovel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients,,HUMAN MUTATION, Issue 6 2002Karin Michels-Rautenstrauss Abstract Mutations at the myocilin (MYOC) gene within the GLC1A locus have been revealed in 2-4% of patients suffering primary open angle glaucoma (POAG) worldwide. In our ongoing glaucoma study sixhundred eighty two persons have been screend for MYOC mutations. The first group consisted of 453 patients from a long-term clinical study diagnosed either with juvenile OAG (JOAG), POAG, ocular hypertension (OHT) or normal tension glaucoma (NTG) plus 22 cases of secondary glaucoma. This group, and additional 83 healthy controls, is part of a long term study with repeated clinical examinations at the University of Erlangen-Nurnberg. An additional sample of 124 glaucoma patients or at risk persons referred from other sources were included in the mutation screening. Five novel mutations, namely Gly434Ser, Asn450Asp, Val251Ala, Ile345Met and Ser393Asn, could be identified as cause of preperimetric POAG, JOAG, normal tension POAG and POAG. Myocilin mutations were identified similar with previous reports with other ethnic populations at the rate of 11/341 (3.2%) probands. © 2002 Wiley-Liss, Inc. [source] Chronic open angle glaucoma: patient awareness of the nature of the disease, topical medication, compliance and the prevalence of systemic symptomsOPHTHALMIC AND PHYSIOLOGICAL OPTICS, Issue 1 2004Sunil Deokule Abstract Purpose:, To study the awareness of the nature of the disease, compliance with treatment, and prevalence of systemic symptoms in a group of patients with chronic open angle glaucoma (COAG). Method:, A structured questionnaire was designed and given to 260 consecutive COAG patients attending a general ophthalmology clinic. Questions related to the increased risk of COAG amongst family members, screening of family members, nature of field defects, variation in IOP, topical treatment and availability of a free eye test for a COAG patient in the UK were asked. Compliance and systemic symptoms were also assessed. Results:, Forty-one per cent (107 of 260) of patients in the study group were aware of the increased risk of COAG in family members and 45.5% (118 of 260) of patient's family members had undergone screening for COAG. Seventy-three per cent (191 of 260) of the patients were aware of their own and their family members' entitlement to a free eye test. Seventy-seven per cent of patients claimed full compliance. Thirty per cent of patients were noted to have systemic symptoms. Conclusions:, The awareness of the nature of COAG in this population was low and incidence of perceived drug related systemic symptoms very high. Both of these may contribute to poor compliance. [source] A double masked placebo controlled study on the effect of nifedipine on optic nerve blood flow and visual field function in patients with open angle glaucomaBRITISH JOURNAL OF CLINICAL PHARMACOLOGY, Issue 2 2001Georg Rainer Aims, To investigate whether nifedipine affects ocular perfusion or visual fields in open angle glaucoma patients. Methods, In a parallel group study nifedipine or placebo was administered for 3 months (n = 30). Ocular fundus pulsation amplitude (FPA), cup blood flow (Flowcup) and visual field mean deviation (MD) were measured. Results, Five patients receiving nifedipine discontinued due to adverse events. Nifedipine did not affect FPA [difference: 0.3 µm (95% CI ,0.3,0.9); P = 0.70], Flowcup: [difference: ,9 rel.units (95% CI ,133,114); P = 0.99], or MD [difference: 0.2dB (95% CI ,2.2,2.7); P = 0.51]vs placebo. Conclusions, Systemic nifedipine is not well tolerated in glaucoma patients and exerts no effect on visual fields or ocular perfusion. [source] 2151: Interaction of vascular and biomechanical aspects of glaucomaACTA OPHTHALMOLOGICA, Issue 2010M LESK Purpose In an attempt to understand some of the reasons why some optic nerves appear to be sensitive to IOP and others not, I will review studies describing the interaction between vascular and biomechanical factors in open angle glaucoma. Methods Studies using biomechanical modelling, epidemiologic data, measurements of ocular or systemic blood flow, measurment of peripheral vasospasticity, and measurement of ocular biomechanical parameters will be reviewed. Hypotheses will be presented regarding the interpretation of these data. Results Studies suggest that the optic nerves of vasospasctic patients may be more IOP-sensitive than those of non-vasospastic patients. Non-invasive measurements of ocular blood flow suggest that this pressure-sensitivity may be related to IOP-sensitive optic nerve blood flow. Biomechanical modelling suggests that scleral and lamina cribrosa elasticity, axial length, and eye wall thickness contribute to optic nerve head stress and strain. Cross-sectional clinical data supports the role of increased ocular elasticity in the susceptibilty of the optic nerve to glaucoma damage, especially in vasospastic patients. Some promising new avenues for research in this area will be presented. Conclusion There is increasing evidence that biomechanical and vascular ocular factors interact leading to an elevated susceptibilty of the optic nerve to glaucomatous optic nerve damage. Commercial interest [source] 4121: Combined OCT retinal nerve fibre layer analysis and VEP in neuro-ophthalmic diseaseACTA OPHTHALMOLOGICA, Issue 2010P GOOD Purpose Ocular Coherence Tomography (OCT) has become a valuable tool in assessing retinal nerve fibre layer thickness (RNFL) in Patients with optic nerve disease. This study is designed to compare RNFL thickness n with Visual Evoked Cortical Potentials (VECP)in patients with known optic nerve disease and comparing these to a group of patients with primary open angle glaucoma (POAG). Methods Twenty Patients (37 eyes) with clinically determined optic nerve disease underwent pattern reversal VECP and also OCT using a Spectralis OCT system. Assessment of global and segmental RNFL was made. Six Patients were diagnosed as Dominant Optic atrophy, 3 with Lebers Optic Neuropathy (LHON), 6 with Nutritional amblyopia, 3 with Anterior Ischaemic Optic Neuropathy (AION), and 2 with Demyelinating disease. These Patients were also compared to a group of 10 patients (20 eyes) with Primary Open Angle Glaucoma POAG. Results Pattern reversal VECP were abnormal in 32/37 eyes (86%): 26/32 (81%) of these being of reduced amplitude, and 20/32 (62%) being delayed. Amongst the patients with POAG only 4/20 eyes (20%) had abnormal VECP, and none were delayed. Thinning of the RNFL occurred in 36/37 eyes (97%) with optic nerve disease; 24 (65%) had global thinning, and the remainder segmental thinning only. All of the eyes with POAG had RNFL thinning but only 6/20 eyes (30%) had global thinning. Bipolar cell thinning of the central retina was noted in 6 eyes with optic nerve disease. Conclusion OCT is a valuable tool in the assessment of patients with optic nerve disease. Thinning of the RNFL was a more consistent finding than delay of the VECP in optic nerve disease, and a combination of VECP and OCT is helpful in the differential diagnosis of low tension glaucoma and optic nerve disease. [source] 2127: Ghrelin concentration in the aqueous humour and plasma in open angle glaucoma patientsACTA OPHTHALMOLOGICA, Issue 2010A KATSANOS Purpose Ghrelin is a peptide hormone that exerts metabolic and smooth muscle-relaxant effects in ocular tissues. The aim of this study was to compare aqueous humor and plasma levels of ghrelin in patients with open angle glaucoma (OAG) and controls. Methods Twenty four OAG, including 7 pseudoexfoliation (PXG) and 17 primary open-angle glaucoma (POAG) patients, and 30 controls were included. All participants were patients scheduled for cataract or glaucoma surgery. Patients with other concomitant ocular disease, previous ocular surgery or diabetes were excluded. Blood samples were collected before cataract surgery. Aqueous humor was aspirated from the anterior chamber through a paracentesis with a 27 G needle under sterile conditions. Ghrelin levels in both samples were measured quantitatively with commercially available Radioimmunoassay (RIA) kits. Results Mean±SD age was 71.0±9.3 and 69.6±6.6 years in the OAG and control groups, respectively (p=0.6). Plasma levels of ghrelin were 495.6±157.7 pg/ml in the OAG and 482.2±125.4 pg/ml in the control group, respectively (Mann-Whitney test, p=0.9). Aqueous humor levels of ghrelin were 85.5±15.4 pg/ml and 123.4 ±25.5 pg/ml in the OAG and control groups, respectively (Mann-Whitney test, p<0.01). The ratio of plasma/aqueous concentration in ghrelin was higher in the OAG versus the control group (5.82± 1.94 versus 4.00±1.04, Mann-Whitney test, p<0.01). There was no difference neither in plasma nor in aqueous humor levels of ghrelin between POAG and PXG patients (p>0.5). Conclusion Aqueous humor levels of ghrelin were significantly lower in OAG patients. This difference may manifest a role of ghrelin in the disease process or a consequence of antiglaucoma treatment. [source] 2356: Diurnal variation of ocular pulse amplitude in primary open angle glaucoma patientsACTA OPHTHALMOLOGICA, Issue 2010LA PINTO Purpose (1) to determine the diurnal behaviour of the ocular pulse amplitude (OPA) in primary open angle glaucoma (POAG) patients. (2) To identify any variables modulating OPA. Methods In this prospective study we included 22 POAG patients under topical intraocular pressure (IOP)-lowering treatment, who underwent contour dynamic tonometry measurements every three hours from 9am to 6pm for IOP and OPA readings. Heart rate (HR) and blood pressure (BP) were simultaneously recorded during the ocular measurements. Only the eye with greater glaucomatous damage was selected per patient. Results Both IOP and OPA did not change during the day (OPA: 3.0±1.3, 3.2±1.4, 2.9±1.5, 3.0±1.3; IOP: 19.3±2.9, 20.0±3.0, 19.1±3.0, 19.8±2.6; multiple comparisons p=0.21, p=0.27 respectively). Systolic, diastolic and did not present significant diurnal variation (p<0.05 all measurements). OPA was significantly correlated at all time-measurements with arterial pulse pressure, but not by IOP, median ocular pulse pressure(MOPP) nor median arterial pressure (p<0.05). Univariate analysis revealed HR to negatively correlate OPA at the 15h and 18h measurements (r= -0,42, p=0.049; r= -0,53, p=0.01; respectively). Multiple linear regression analysis identified blood pressure amplitude as an independent factor contributing to OPA (p<0.05 at all measurements). These observations were more pronounced in patients with high blood pressures. Conclusion OPA readings seem to be influenced by blood pressure amplitude in POAG patients. High blood pressure amplitude values may overcome the eye self-regulation mechanisms, resulting in the OPA becoming dependent on the blood pressure amplitude rather than of the IOP. [source] Systemic disease associations of familial and sporadic glaucoma: the Glaucoma Inheritance Study in TasmaniaACTA OPHTHALMOLOGICA, Issue 1 2010Alex W. Hewitt Abstract. Background:, This aim of this study was to compare the prevalence of various disease-associated and potentially modifiable risk factors between people with familial and sporadic forms of primary open angle glaucoma (OAG). Methods:, A cross-sectional, retrospective study design was utilized. A detailed questionnaire enquiring about knowledge of family history, demographic data, current medications, and medical history of systemic disorders was administered. Where possible, living relatives were examined for signs of OAG. Results:, A total of 3,800 potential patients with OAG were identified, of whom 2062 were examined. One thousand twelve (59.5%) subjects were found to have familial OAG, and 688 (40.5%) subjects had no known or identified relative with OAG (sporadic glaucoma). One thousand forty-two unaffected family members examined. A past history of migraine was found more often with familial OAG (OR: 1.67 95% CI: 1.15,2.42). This effect was primarily driven by patients who had a first-degree relative also affected by OAG. Following adjustment for male gender and the age at review, the presence of atherosclerosis was also found to be more common in patients with familial glaucoma than in people with sporadic disease (OR: 1.42 95% CI: 1.05,1.92). No significant difference in the prevalence of hypertension, Raynaud's phenomenon, diabetes mellitus or thyroid disease was identified. Conclusions:, Patients with a known relative affected by OAG were statistically significantly more likely to have a past history for migraine or presence of atherosclerosis compared to people with no known affected relative. An understanding of such differences and systemic comorbidities will be useful for further work investigating the underlying molecular mechanisms of this disease. [source] Noninvasive oximetry and glaucomaACTA OPHTHALMOLOGICA, Issue 2009OB OLAFSDOTTIR Purpose To investigate retinal vessel oxygen saturation in relation to glaucomatous visual field damage. Specifically, we examined whether oxygen saturation in retinal blood vessels differs between regions corresponding to glaucomatous visual field defects compared to regions without visual field defects. Methods A spectrophotometric retinal oximeter (Oxymap ehf, Reykjavík, Iceland) was used to measure oxygen saturation in retinal arterioles and venules. The oximeter consists of a fundus camera, beam splitter, light filters and software that evaluate the oxygen saturation. The glaucomatous defect was estimated from a visual field test using the Octopus 1-2-3 perimeter. One eye in 13 individuals with open angle glaucoma with or without pseudoexfoliation syndrome was examined. Results In retinal areas with no visual field defect, the mean oxygen saturation in arterioles was 102±6% and 65±9%, (mean±SD) in venules. The arteriovenous difference was 37±10%. In retinal areas corresponding to visual field defects, the mean oxygen saturation in arterioles was significantly lower; 98±5% (p=0.04, paired t-test, n=13). The venules were at 68±7% (p=0.3) and the arteriovenous difference was also significantly lower; 30±10% (p=0.04). Conclusion Arteriolar oxygen saturation and arteriovenous difference is statistically lower in areas with visual field defects compared to areas without visual field defects. This data suggests that visual field defects are associated with a reduction in retinal oxygen delivery and metabolism. [source] Ocular rigidity and ocular response analyzerACTA OPHTHALMOLOGICA, Issue 2009E IOMDINA Purpose To study ocular rigidity and sclera crosslinking level at diferent stages of primary open angle glaucoma (POAG). Methods Biomechanical parameters of the eye especially corneal hysteresis (CH, mm Hg) were measured in 238 patients (311 eyes) aged 40-84 (median age 67.4 yrs) at various stages of compensated primary open-angle glaucoma using Reichert Ocular Response Analyzer (ORA). Besides, scleral samples obtained during sinus trabeculectomy combined with sclera trephination in the inferio-exterior quadrant of 28 patients (28 eyes) with various stages of POAG were studied using differential scanning calorimetry (Mettler TA 4000 with DSC20 cell). Results Average value (median) of CH gradually decreased from 10.1 mm Hg in the initial glaucoma stage (I) to 9.1 mm Hg in the developed (II) and 8.6 mm Hg in the advanced (III) glaucoma stage. The decrease of this clinical parameter is caused by structural and biochemical damage of the corneoscleral coat. In stage I, endothermic scleral collagen transition occurred at the median thermal peak Tm=60.3 grad.C, while in stages II and III the median peaks of scleral collagen melting emerge at higher temperatures: Tm=62.0 grad.C and Tm=64.5 grad.C, respectively (p<0,05). This testifies to a significant increase of scleral cross-linking and ocular rigidity during glaucoma development. Conclusion Biomechanical and biochemical disorders of glaucomatous sclera may cause clinical changes of ocular rigidity of eyes with POAG. This may be an important link of POAG pathogenesis requiring special therapy. [source] Evidence for altered ocular rigidity in glaucomaACTA OPHTHALMOLOGICA, Issue 2009L SCHMETTERER Purpose Based on theoretical models and animal studies altered biomechanical properties of the optic nerve head and the sclera have been implicated in the pathophysiology of glaucoma. Only few data have, however, demonstrated such biomechanical alterations in vivo. We tested the hypothesis that patients with primary open angle glaucoma (POAG) have an abnormal structural stiffness based on measurements of intraocular pressure amplitude and ocular fundus pulsation amplitude. Methods Seventy patients with POAG and 70 healthy control subjects matched for age, gender, intraocular pressure and systemic blood pressure were included in this study. The ocular pulse amplitude (PA) was assessed with pneumotonometry. The fundus pulsation amplitude (FPA) was measured using laser interferometry. Based on the Friedenwald equation a coefficient of structural stiffness (E1) was calculated relating PA to FPA. Results Systemic blood pressure, intraocular pressure, and ocular perfusion pressure was comparable between glaucoma patients and healthy control subjects. FPA as well as PA was lower in patients with glaucoma than in healthy controls. The calculated factor E1 was significantly higher in patients with POAG (0.0454 ± 0.0085 a.u.) than in healthy control subjects (0.0427 ± 0.0058 a.u., p = 0.03). Conclusion This study is indicative of increased structural stiffness of the sclera in patients with POAG. This is in agreement with a number of previous animal experiments and supports the idea that the biomechanical properties of ocular tissues play a role in the process of glaucomatous ONH damage. [source] Evaluation of cerebrospinal fluid pressure in patients with Alzheimer's disease as a possible cause of glaucomaACTA OPHTHALMOLOGICA, Issue 2009S KIEKENS Purpose To investigate whether cerebrospinal fluid (CSF) pressure and trans-lamina cribrosa pressure gradient play a role in the pathogenesis of glaucoma. Our hypothesis is that a low cerebrospinal fluid (CSF) pressure may be correlated with the presence of glaucoma. The first objective is to investigate whether the CSF pressure in Alzheimer's disease (AD) patients with glaucoma is lower than in AD patients without glaucoma. The second goal is to evaluate an animal model with AD for the incidence and prevalence of glaucoma. If glaucoma is present histopathological analysis will be performed on retina and optic nerve, to search for Alzheimer-type changes. Methods Newly diagnosed AD suspects will undergo a lumbar puncture with CSF manometry, during neurological work-up. Ophthalmological evaluation consists of best corrected visual acuity, slit lamp biomicroscopy, gonioscopy, fundoscopy and pachymetry. Diagnosis of glaucoma or ocular hypertension will be made on the basis of visual field examination, optic disc evaluation and IOP measurement. Correlation between CSF pressure, trans lamina cribrosa pressure gradient and the presence of glaucoma will be calculated. The prevalence of low tension glaucoma will be compared to the prevalence of chronic open angle glaucoma with elevated IOP. In the second part of the project a genetically modified strain of mice with AD will be examined and screened for the development of glaucoma. Opthalmological examination will consist of IOP measurement, corneal pachymetry, optic disc evaluation and visual evoked potentials with flash. Histopathological analysis will be performed by the team of Prof De Deyn PP. Results will follow Conclusion will follow [source] Effects of moxaverine on ocular blood flow in patients with age-related macular degeneration, patients with primary open angle glaucoma and in healthy controlsACTA OPHTHALMOLOGICA, Issue 2009B PEMP Purpose Several common eye diseases including age-related macular degeneration (AMD) and primary open angle glaucoma (POAG) are associated with ocular perfusion abnormalities. Moxaverine has been shown to increase ocular blood flow in young, healthy volunteers after intravenous administration. The present study investigated whether moxaverine alters ocular blood flow in elderly patients with AMD or POAG and in healthy control subjects. Methods 20 patients with AMD, 20 patients with POAG and 20 age-matched healthy subjects were included in this trial. 150 mg moxaverine (Ursapharm, Saarbrücken, Germany) was administered intravenously over 30 minutes. Systemic haemodynamics, retinal vessel diameters, choroidal, optic nerve head and retrobulbar blood flow were measured before and up to 90 minutes after drug administration. Results Administration of moxaverine increased choroidal blood flow by 8.7 ± 21.8% (p=0.012) and optic nerve head blood flow by 12.9 ± 33.3% (p=0.021). Additionally, an increase in the mean flow velocities of posterior ciliary arteries (24.8 ± 34.7%, p<0.001) and in the ophthalmic artery (23.3 ± 33.5%, p<0.001) was found after administration of moxaverine. However, no differences were found between the 3 study groups. No significant change of retinal vessel diameters was observed. Conclusion The present study indicates an increase of ocular blood flow after systemic administration of a single dose of moxaverine in patients with POAG, patients with AMD and in age-matched healthy controls. Further studies are needed to investigate possible beneficial effects after long-term treatment in patients with ocular diseases associated with hypoperfusion. [source] Effect of glaucoma and glaucoma risk factors on choroidal hemodynamicsACTA OPHTHALMOLOGICA, Issue 2009W ABOU SAMRA Purpose a) to determine subfoveal choroidal hemodynamics in patients with primary open angle glaucoma (POAG) and patients with ocular hypertension (OH); b) to assess the effects of diabetes (DM), systemic hypertension (SHT) and myopia on subfoveal choroidal hemodynamics Methods Laser Doppler flowmetry (LDF) was used to determine the subfoveal choroidal blood velocity (ChBVel), volume (ChBVol), and flow (ChBF) in 1) patients with POAG (n=85) and patients with OHT (n=25); 2) patients with glaucoma risk factors which were further subdivided into three subgroups; DM (n=93), SHT (n=57) and myopia (n=29) respectively. Subjects with each risk factor were further subdivided into two subgroups (without and with POAG), 3) age matched healthy controls (n=100). Results All LDF parameters were significantly reduced in all groups of patients compared with age matched controls. No statistically significant differences in the LDF parameters among HTG, NTG and OHT subgroups were detected. No significant difference in the LDF parameters between the two subgroup of each risk factor (without and with POAG) was noted. The LDF data of glaucomatous patients with risk factors demonstrated a significant reduction of ChBF and an increase in resistance in comparison to glaucomatous patients without risk factors Conclusion Subfoveal choroidal LDF parameters are reduced in subjects with POAG, OHT and patients with glaucoma risk factors, such as DM, SHT (under antihypertensive therapy) and myopia when compared with age matched healthy controls. However, the role of these choroidal circulatory alterations in the development or progression of the glaucomatous optic neuropathy remains to be clarified. [source] Association between optic nerve head blood flow as assessed with Laser Doppler Flowmetry and mean arterial blood pressure in glaucoma, ocular hypertension and healthy control subjectsACTA OPHTHALMOLOGICA, Issue 2009D SCHMIDL Purpose It has been implicated that vascular dysregulation plays a role in the pathogenesis of primary open angle glaucoma (POAG). In the present study the association between optic nerve head blood flow as measured with laser Doppler flowmetry and ocular perfusion pressure in patients with treated and untreated POAG, patients with ocular hypertension and healthy control subjects was compared. Methods 136 patients with treated POAG, 116 patients with untreated POAG, 138 patients with ocular hypertension and 160 control subjects were included in the study. Optic nerve head blood flow was assessed using laser Doppler flowmetry. Ocular perfusion pressure was calculated based on measurement of IOP and systemic hemodynamics. Results Optic nerve head blood flow was significantly reduced in patients with glaucoma compared to patients with ocular hypertension and healthy subjects (p<0.01). However, no difference in optic nerve head blood flow between treated and untreated glaucoma patients was detected. The highest association between ocular perfusion pressure and optic nerve head blood flow was found in untreated glaucoma patients followed by ocular hypertensives and treated glaucoma patients. Conclusion The present study confirms evidence that optic nerve head blood flow is reduced in patients with POAG and patients with ocular hypertension. Correlation coefficients in the glaucoma groups and in the ocular hypertensives indicate a vascular dysregulation in these patients compared to healthy control subjects. [source] Effect of phacoemulsification on the primary open angle glaucoma control after trabeculectomy: a case-control studyACTA OPHTHALMOLOGICA, Issue 2009S AZIZ Purpose In this retrospective and comparative study, we analyzed the influence of phacoemulsification (PE) on the glaucoma control in case patients (trabeculectomy-phacoemulsification [CE]) compared with the control that underwent trabeculectomy (T) alone in eyes with primary open angle glaucoma (POAG). Methods Twenty one patients who underwent PE subsequent to T were identified, and 41 who underwent T alone were matched. Visual acuity (VA), intraocular pressure (IOP), bleb appearance, vertical cup disc ratio (VCDR), visual field (VF), glaucoma medications, iris manipulation and complications were documented. Mean follow up was 12 months. Success was defined when IOP , 21 mmHg with the abscense of glaucoma medication and/or further surgical intervention. Results Patients in CE group had no significant change in IOP from pre-operative measures to 12 months post-operative (p=0.001). The mean IOP reduced from 15.3 mm Hg to 14.7 mmHg postoperatively. The control group showed an average IOP reduction of 6 mm Hg in the last visit. In CE group, 19% required 1 or 2 glaucoma medications at one year fellow-up vs 19.5% in the control group. In CE group 9.5% showed flattening of previously formed bleb in the last visit (P<0.001), 9.7 % ended with flat bleb in the T group. The increase in VCDR for the CE group was statistically significant when compared to the control group (p<0.001). Patients in CE group were more likely to exhibit a change in VF (47.6% versus 7.3% respectively). The study is limited by the small number of cases available. Conclusion Corneal PE in eyes with filtering blebs does not adversely affect long-term glaucoma control in patients with POAG. [source] Unraveling the genetics of exfoliation glaucomaACTA OPHTHALMOLOGICA, Issue 2008F JONASSON Purpose To give an account of our recent discovery (2007) of the association of lysyl oxidase like 1 (LOXL1) sequence variants and exfoliation glaucoma (XFG) as well as later replications in other populations. Methods We did a genome-wide association study on open angle glaucoma cases and controls using the Illumina 300 chip. This chip includes probes for 317.000 single , nucleotide polymorphisms (SNPs), that tag, as highly correlated surrogates about 80% of the 2.1 million known common SNPs in the Caucasian genome. For diagnosis of exfoliation syndrome a peripheral band or central shield of exfoliative material on the anterior lens capsule was required. Results When we had done 195 open angle glaucoma cases high genome wide significance was achieved on chromosome 15q24.1 an association later found to be confined to XFG only. This SNP (rs2165241T) was located in the first intron of the LOXL1 gene. We then added 11 correlated SNPs that are not on the Illumina chip and found that two non-synonymous variants in the first exon of LOXL1 can jointly account for all the observed association (R141L, OR 2.5; G153D, OR 20.1). Combined the variants explained 99% of the population attributable risk for exfoliation glaucoma. Conclusion These findings have now largely been confirmed in numerous American, Asian, Australian and European studies, and in all instances do these polymorphisms in the LOXL1 gene confer risk to XFG. LOXL1 is cross linking enzyme responsible for elastin polymer deposition in ocular tissue. The LOXL1 discovery is the first big hit in the search for genetic background for exfoliation glaucoma. These findings may soon influence monitoring of glaucoma suspects in the clinic targeting persons with the high risk haplotypes. [source] Chronic open angle glaucoma: Risk factors in addition to intraocular pressureACTA OPHTHALMOLOGICA, Issue 6 2001Stephen Drance No abstract is available for this article. [source] Optic nerve head parameters of an indigenous population living within Central AustraliaCLINICAL & EXPERIMENTAL OPHTHALMOLOGY, Issue 9 2006John A Landers MBBS MPH Abstract Purpose:, Clinical examination of the optic disc is an essential element in the assessment of its health. Previous work has described normal optic disc appearance among different races. No such description of optic discs exists for indigenous Australians, who are at low risk of developing glaucoma. This study was designed to evaluate optic disc parameters of indigenous Australians. Methods: A sample of 208 indigenous Australians were recruited as they presented to remote clinics in Central Australia. Each subject underwent optic disc photography using a Topcon TRC-NW100 digital fundus camera. Optic discs were measured and analysed with Topcon ImageNet 2000 software. Results: Among other parameters, mean vertical disc diameter and disc area were 2.13 ± 0.21 mm (mean ± SD) and 3.13 ± 0.57 mm2, respectively, for right eyes and 2.14 ± 0.21 mm and 3.16 ± 0.58 mm2 for left eyes. When compared with published studies, these parameters were significantly larger than Caucasians, but similar to African individuals. Conclusion:, Our results suggest that indigenous Australians have optic discs that are larger than those of Caucasians, but similar to those of Africans who are considered to at a greater risk of glaucoma. Factors other than optic disc area are likely to underlie the higher prevalence of primary open angle glaucoma among African individuals. [source] Postural stability in primary open angle glaucomaCLINICAL & EXPERIMENTAL OPHTHALMOLOGY, Issue 3 2005Noor Shabana MB BS Abstract Background:, This study evaluated the visual contribution to postural steadiness in primary open angle glaucoma (POAG), in correlation with the mean deviation (MD) measured through conventional perimetry, and with the Advanced Glaucoma Intervention Study (AGIS) score, which quantifies the extent of losses in the visual field. Methods:, In 35 POAG patients and 21 age-matched normal subjects, the sway of the centre of pressure of the feet, on a firm or foam support, was recorded. The subjects stood on a force-plate with eyes closed, or with one or two eyes open. Results:, For all subjects, the sway velocity was lower with vision than without vision, indicating the existence of a visual contribution to posture at all stages of glaucoma. This contribution was significantly lower for POAG patients than for normals in monocular and binocular vision, and decreased with the MD, or as the AGIS score increased. Among the maximum, minimum and average values of the two monocular MD, the MD of the worse eye presented the most significant negative correlation with the visual contribution to posture. The somatosensory contribution to postural steadiness was larger in POAG patients, as compared to normals, in monocular or binocular vision. Conclusion:, Primary open angle glaucoma induces a deficit in the visual contribution to postural steadiness, which should be taken into account for the prevention of falls. [source] Carotid artery ectasia coexistent with primary open angle glaucomaCLINICAL & EXPERIMENTAL OPHTHALMOLOGY, Issue 1 2001Mark F Ellis FRACO ABSTRACT A 60-year-old smoker presented with high intraocular pressure in the right eye with a right afferent pupil defect and visual field suggestive of primary open angle glaucoma in the right eye only, when an examination 2 years earlier had revealed no hint of ocular pathology. Radiological investigations demonstrated prominent ectasia of the internal carotid arteries extending into the proximal middle cerebral arteries. The changes in the carotids extended throughout the cavernous sinus regions, encroached on the under surface of the optic chiasm and were closely related to the internal aspects of both optic canals. In primary open angle glaucoma management, neural imaging is not normally recommended; however, neural imaging investigations should be considered if the presentation is not typical of a chronic bilateral optic neuropathy. [source] A rare complication from prostaglandin analogue therapyCLINICAL AND EXPERIMENTAL OPTOMETRY, Issue 2 2009Rajarshi Mukhopadhyay This case describes a rare complication of prostaglandin analogue eye drops used for treatment of primary open angle glaucoma. Though increase in the number, size and pigmentation of eyelashes is well-known, this case shows extensive hair growth in malar region, which can be unacceptable. This complication can be one of the causes of discontinuation of prostaglandin analogue therapy. [source] Myocilin gene implicated in primary congenital glaucomaCLINICAL GENETICS, Issue 4 2005K Kaur Primary congenital glaucoma (PCG) has been associated with CYP1B1 gene (2p21), with a predominantly autosomal recessive mode of inheritance. Our earlier studies attributed CYP1B1 mutations to only 40% of Indian PCG cases. In this study, we included 72 such PCG cases where CYP1B1 mutations were detected in only 12 patients in heterozygous condition, implying involvement of other gene(s). On screening these patients for mutations in myocilin (MYOC), another glaucoma-associated gene, using denaturing high-performance liquid chromatography followed by sequencing, we identified a patient who was double heterozygous at CYP1B1 (c.1103G>A; Arg368His) and MYOC (c.144G>T; Gln48His) loci, suggesting a digenic mode of inheritance of PCG. In addition, we identified the same MYOC mutation, implicated for primary open angle glaucoma, in three additional PCG patients who did not harbor any mutation in CYP1B1. These observations suggest a possible role of MYOC in PCG, which might be mediated via digenic interaction with CYP1B1 and/or an yet unidentified locus associated with the disease. [source] Functional analysis of mutants of the optineurin gene, associated with some forms of glaucomaACTA OPHTHALMOLOGICA, Issue 2008D BALASUBRAMANIAN Purpose Mutations in the gene OPTN are associated with normal tension and open angle glaucomas. We have studied the effects of some of these mutations on the cellular biology of retinal ganglion cells, and tried to infer the role of the protein optineurin. Methods We transfected plasmids expressing normal or wild-type (WT) and E50K, R545Q, H26D, and H486R mutant optineurin into a variety of cells such as HeLa, COS-1, retinal pigment epithelial (RPE), and the rat retinal ganglion cell (RGC) line RGC-5, and followed their effects on cell survival by morphologic observation of cells. Expression of optineurin and its mutants was monitored by immunofluorescence staining of cells and by Western blotting. Results The E50K mutant of optineurin, which is associated with the severest phenotype, was seen to selectively induce the death of retinal ganglion cells but not of the other cell lines tested. Neither the wild type cDNA nor the other mutants have any such effect. This cell death induced by E50K OPTN was inhibited by the antioxidants N-acetylcysteine and Trolox. E50K was seen to generate reactive oxygen species (ROS), which were reduced by antioxidants. Coexpression of manganese superoxide dismutase with the E50K mutant abolished ROS production and inhibited cell death. Conclusion E50K optineurin is a gain of function mutant, which has acquired the ability to induce cell death selectively in retinal ganglion cells. This cell death was mediated by oxidative stress. The present findings suggest the possibility of antioxidant use for delaying or controlling some forms of glaucoma. [source] | |||||||||||||