Cataract prevalence, cataract surgical coverage and barriers to uptake of cataract surgical services in Pakistan: the Pakistan National Blindness and Visual Impairment Survey.

AIM: To estimate the prevalence of visual impairment and blindness caused by cataract, the prevalence of aphakia/pseudophakia, cataract surgical coverage (CSC) and to identify barriers to the uptake of cataract services among adults aged >or=30 years in Pakistan. METHODS: Probability proportional-to-size procedures were used to select a nationally representative sample of adults. Each subject underwent interview, visual acuity measurement, autorefraction, biometry and ophthalmic examination. Those that saw <6/12 in either eye underwent a more intensive examination procedure including corrected visual acuity, slit lamp and dilated fundus examination. CSC was calculated for different levels of visual loss by person and by eye. Individuals with <6/60 in the better eye as a result of cataract were interviewed regarding barriers. RESULTS: 16 507 Adults were examined (95.5% response rate). The crude prevalence of blindness (presenting <3/60 in the better eye) caused by bilateral cataract was 1.75% (95% CI 1.55%, 1.96%). 1317 Participants (633 men; 684 women) had undergone cataract surgery in one or both eyes, giving a crude prevalence of 8.0% (95% CI 7.6%, 8.4%). The CSC (persons) at <3/60, <6/60 and <6/18 were 77.1%, 69.3% and 43.7%, respectively. The CSC (eyes) at <3/60, <6/60 and <6/18 were 61.4%, 52.2% and 40.7%, respectively. Cost of surgery (76.1%) was the main barrier to surgery. CONCLUSION: Approximately 570 000 adults are estimated to be blind (<3/60) as a result of cataract in Pakistan, and 3,560000 eyes have a visual acuity of <6/60 because of cataract. Overall, the national surgical coverage is good but underserved populations have been identified

Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci.

Previous studies have suggested that naturally occurring genetic variation contributes to the risk of astigmatism. The purpose of this investigation was to identify genetic markers associated with corneal and refractive astigmatism in a large-scale European ancestry cohort (UK Biobank) who underwent keratometry and autorefraction at an assessment centre. Genome-wide association studies for corneal and refractive astigmatism were performed in individuals of European ancestry (N = 86,335 and 88,005 respectively), with the mean corneal astigmatism or refractive astigmatism in fellow eyes analysed as a quantitative trait (dependent variable). Genetic correlation between the two traits was calculated using LD Score regression. Gene-based and gene-set tests were carried out using MAGMA. Single marker-based association tests for corneal astigmatism identified four genome-wide significant loci (P < 5 × 10-8) near the genes ZC3H11B (1q41), LINC00340 (6p22.3), HERC2/OCA2 (15q13.1) and NPLOC4/TSPAN10 (17q25.3). Three of these loci also demonstrated genome-wide significant association with refractive astigmatism: LINC00340, HERC2/OCA2 and NPLOC4/TSPAN10. The genetic correlation between corneal and refractive astigmatism was 0.85 (standard error = 0.068, P = 1.37 × 10-35). Here, we have undertaken the largest genome-wide association studies for corneal and refractive astigmatism to date and identified four novel loci for corneal astigmatism, two of which were also novel loci for refractive astigmatism. These loci have previously demonstrated association with axial length (ZC3H11B), myopia (NPLOC4), spherical equivalent refractive error (LINC00340) and eye colour (HERC2). The shared role of these novel candidate genes for astigmatism lends further support to the shared genetic susceptibility of myopia and astigmatism

A commonly occurring genetic variant within the NPLOC4-TSPAN10-PDE6G gene cluster is associated with the risk of strabismus.

Strabismus refers to an abnormal alignment of the eyes leading to the loss of central binocular vision. Concomitant strabismus occurs when the angle of deviation is constant in all positions of gaze and often manifests in early childhood when it is considered to be a neurodevelopmental disorder of the visual system. As such, it is inherited as a complex genetic trait, affecting 2-4% of the population. A genome-wide association study (GWAS) for self-reported strabismus (1345 cases and 65,349 controls from UK Biobank) revealed a single genome-wide significant locus on chromosome 17q25. Approximately 20 variants across the NPLOC4-TSPAN10-PDE6G gene cluster and in almost perfect linkage disequilibrium (LD) were most strongly associated (lead variant: rs75078292, OR = 1.26, p = 2.24E-08). A recessive model provided a better fit to the data than an additive model. Association with strabismus was independent of refractive error, and the degree of association with strabismus was minimally attenuated after adjustment for amblyopia. The association with strabismus was replicated in an independent cohort of clinician-diagnosed children aged 7 years old (116 cases and 5084 controls; OR = 1.85, p = 0.009). The associated variants included 2 strong candidate causal variants predicted to have functional effects: rs6420484, which substitutes tyrosine for a conserved cysteine (C177Y) in the TSPAN10 gene, and a 4-bp deletion variant, rs397693108, predicted to cause a frameshift in TSPAN10. The population-attributable risk for the locus was approximately 8.4%, indicating an important role in conferring susceptibility to strabismus

A commonly occurring genetic variant within the NPLOC4–TSPAN10–PDE6G gene cluster is associated with the risk of strabismus

Strabismus refers to an abnormal alignment of the eyes leading to the loss of central binocular vision. Concomitant strabismus occurs when the angle of deviation is constant in all positions of gaze and often manifests in early childhood when it is considered to be a neurodevelopmental disorder of the visual system. As such, it is inherited as a complex genetic trait, affecting 2-4% of the population. A genome-wide association study (GWAS) for self-reported strabismus (1345 cases and 65,349 controls from UK Biobank) revealed a single genome-wide significant locus on chromosome 17q25. Approximately 20 variants across the NPLOC4-TSPAN10-PDE6G gene cluster and in almost perfect linkage disequilibrium (LD) were most strongly associated (lead variant: rs75078292, OR = 1.26, p = 2.24E-08). A recessive model provided a better fit to the data than an additive model. Association with strabismus was independent of refractive error, and the degree of association with strabismus was minimally attenuated after adjustment for amblyopia. The association with strabismus was replicated in an independent cohort of clinician-diagnosed children aged 7 years old (116 cases and 5084 controls; OR = 1.85, p = 0.009). The associated variants included 2 strong candidate causal variants predicted to have functional effects: rs6420484, which substitutes tyrosine for a conserved cysteine (C177Y) in the TSPAN10 gene, and a 4-bp deletion variant, rs397693108, predicted to cause a frameshift in TSPAN10. The population-attributable risk for the locus was approximately 8.4%, indicating an important role in conferring susceptibility to strabismus

The Prevalence of Visual Impairment in People with Dementia (the PrOVIDe study): a cross-sectional study of people aged 60–89 years with dementia and qualitative exploration of individual, carer and professional perspectives

Background: The prevalence of visual impairment (VI) and dementia increases with age and these conditions may coexist, but few UK data exist on VI among people with dementia. Objectives: To measure the prevalence of eye conditions causing VI in people with dementia and to identify/describe reasons for underdetection or inappropriate management. Design: Stage 1 – cross-sectional prevalence study. Stage 2 – qualitative research exploring participant, carer and professional perspectives of eye care. Setting: Stage 1 – 20 NHS sites in six English regions. Stage 2 – six English regions. Participants: Stage 1 – 708 participants with dementia (aged 60–89 years): 389 lived in the community (group 1) and 319 lived in care homes (group 2). Stage 2 – 119 participants. Interventions: Stage 1 gathered eye examination data following domiciliary sight tests complying with General Ophthalmic Services requirements and professional guidelines. Cognitive impairment was assessed using the Standardised Mini-Mental State Examination (sMMSE) test, and functional ability and behavior were assessed using the Bristol Activities of Daily Living Scale and Cambridge Behavioural Inventory – Revised. Stage 2 involved individual interviews (36 people with dementia and 11 care workers); and separate focus groups (34 optometrists; 38 family and professional carers). Main outcome measures.: VI defined by visual acuity (VA) worse than 6/12 or worse than 6/18 measured before and after refraction. Results: Stage 1 – when participants wore their current spectacles, VI prevalence was 32.5% [95% confidence interval (CI) 28.7% to 36.5%] and 16.3% (95% CI 13.5% to 19.6%) for commonly used criteria for VI of VA worse than 6/12 and 6/18, respectively. Of those with VI, 44% (VA 80% of participants. There was no evidence that the management of VI in people with dementia differed from that in older people in general. Exploratory analysis suggested significant deficits in some vision-related aspects of function and behaviour in participants with VI. Stage 2 key messages – carers and care workers underestimated how much can be achieved in an eye examination. People with dementia and carers were unaware of domiciliary sight test availability. Improved communication is needed between optometrists and carers; optometrists should be informed of the person’s dementia. Tailoring eye examinations to individual needs includes allowing extra time. Optometrists wanted training and guidance about dementia. Correcting VI may improve the quality of life of people with dementia but should be weighed against the risks and burdens of undergoing examinations and cataract surgery on an individual basis. Limitations: Sampling bias is possible owing to quota-sampling and response bias. Conclusions: The prevalence of VI is disproportionately higher in people with dementia living in care homes. Almost 50% of presenting VI is correctable with spectacles, and more with cataract surgery. Areas for future research are the development of an eye-care pathway for people with dementia; assessment of the benefits of early cataract surgery; and research into the feasibility of specialist optometrists for older people

Triglyceride-rich lipoproteins and high-density lipoprotein cholesterol in patients at high risk of cardiovascular disease: evidence and guidance for management

Even at low-density lipoprotein cholesterol (LDL-C) goal, patients with cardiometabolic abnormalities remain at high risk of cardiovascular events. This paper aims (i) to critically appraise evidence for elevated levels of triglyceride-rich lipoproteins (TRLs) and low levels of high-density lipoprotein cholesterol (HDL-C) as cardiovascular risk factors, and (ii) to advise on therapeutic strategies for management. Current evidence supports a causal association between elevated TRL and their remnants, low HDL-C, and cardiovascular risk. This interpretation is based on mechanistic and genetic studies for TRL and remnants, together with the epidemiological data suggestive of the association for circulating triglycerides and cardiovascular disease. For HDL, epidemiological, mechanistic, and clinical intervention data are consistent with the view that low HDL-C contributes to elevated cardiovascular risk; genetic evidence is unclear however, potentially reflecting the complexity of HDL metabolism. The Panel believes that therapeutic targeting of elevated triglycerides (≥1.7 mmol/L or 150 mg/dL), a marker of TRL and their remnants, and/or low HDL-C (<1.0 mmol/L or 40 mg/dL) may provide further benefit. The first step should be lifestyle interventions together with consideration of compliance with pharmacotherapy and secondary causes of dyslipidaemia. If inadequately corrected, adding niacin or a fibrate, or intensifying LDL-C lowering therapy may be considered. Treatment decisions regarding statin combination therapy should take into account relevant safety concerns, i.e. the risk of elevation of blood glucose, uric acid or liver enzymes with niacin, and myopathy, increased serum creatinine and cholelithiasis with fibrates. These recommendations will facilitate reduction in the substantial cardiovascular risk that persists in patients with cardiometabolic abnormalities at LDL-C goal

Prevalence and causes of functional low vision and implications for services: the Pakistan National Blindness and Visual Impairment Survey.

PURPOSE: To determine the prevalence and causes of functional low vision (FLV) and total blindness and to estimate the assessment needs for low-vision services in Pakistan. METHODS: Multistage, cluster random sampling was used to select a nationally representative sample of adults (age, > or =30 years). Participants underwent visual acuity measurement and detailed ophthalmic examination. Functional low vision was defined as a corrected visual acuity in the better eye of less than 6/18 to more than no perception of light (NPL) in individuals with untreatable causes of visual loss. Total blindness was defined as NPL in both eyes. Needs assessments were categorized into three groups: optical services, nonoptical/environmental interventions, and rehabilitation. RESULTS: A sample of 16,507 adults (95.3% response rate) was examined. The standardized prevalence of FLV and total blindness were 1.7% (95% CI: 1.5%-1.9%) and 0.2% (95% CI: 0.1%-0.2%), respectively. More than 90% of those with FLV were illiterate and 35.3% were of working age (i.e., <60 years). An estimated 727,000 (586,000-891,000) adults in Pakistan had FLV. Retinal conditions were the commonest cause in urban populations (39.8% vs. 26.5% rural) compared with corneal opacity in rural areas (38.0% vs. 25.5% urban). It was estimated that 565,000 adults require assessment for optical services, 735,000 for nonoptical interventions, and 424,000 for rehabilitation. CONCLUSIONS: As VISION 2020 enters its second 5-year phase, the provision of low-vision services and their integration into national eyecare programs is a priority. In Pakistan, planning must take account of the magnitude along with the demographic and educational characteristics of those affected

Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management.

PURPOSE: To describe the clinical features of children with anophthalmos, microphthalmos, and typical coloboma (AMC). DESIGN: Descriptive, observational, cross-sectional study of the United Kingdom. PARTICIPANTS: A total of 135 children with AMC newly diagnosed over an 18-month period beginning in October 2006. METHODS: Cases were identified using active surveillance through an established ophthalmic surveillance system. Eligible cases were followed up 6 months after first notification. MAIN OUTCOME MEASURES: Phenotypic characteristics, both ocular and systemic, clinical investigations, causes, and interventions. RESULTS: A total of 210 eyes (of 135 children) were affected by AMC, of which 153 had isolated coloboma or coloboma with microphthalmos. The most common colobomatous anomaly was a chorioretinal defect present in 109 eyes (71.2%). Some 44% of children were bilaterally visually impaired. Systemic abnormalities were present in 59.7% of children, with craniofacial anomalies being the most common. Children with bilateral disease had a 2.7 times higher odds (95% confidence interval, 1.3-5.5, P = 0.006) of having systemic involvement than unilaterally affected children. Neurologic imaging was the most frequent investigation (58.5%) performed. Less than one third (30.3%) of the children with microphthalmos had ocular axial lengths measured. Eight children had confirmed genetic mutations. Approximately half (49.2%) of the children required ocular intervention. CONCLUSIONS: Colobomatous defects were the most common phenotype within this spectrum of anomalies in the United Kingdom. The high frequency of posterior segment colobomatous involvement means that a dilated fundal examination should be made in all cases. The significant visual and systemic morbidity in affected children underlines the importance of a multidisciplinary approach to management

Visual function and quality of life among visually impaired and cataract operated adults. The Pakistan National Blindness and Visual Impairment Survey.

PURPOSE: To assess visual functioning and quality of life in a representative sample of normally sighted, visually impaired and cataract operated individuals aged >or= 30 years in Pakistan. METHODS: As part of the Pakistan National Blindness and Visual Impairment Survey, visual functioning (VF) and quality of life (QOL) questionnaires were administered to participants with presenting visual acuity less than 6/60 in either eye, aphakes/pseudophakes and a phakic sample with normal acuity (>or= 6/12 both eyes). RESULTS: Of 16,507 adults included in the survey, 2329 questionnaires were administered. There were strong correlations between visual acuity and VF/QOL. Mean VF and median QOL scores in normally sighted phakic individuals were 81.1 and 88.9, respectively, but were only 34.8 and 64.9 in blind unoperated individuals. In the cataract operated population overall mean VF and median QOL scores were 49.3 and 75.0. Both VF and QOL scores were lower in operated individuals than unoperated individuals (p < 0.001). Among operated individuals, rural dwelling and illiteracy were associated with lower VF and QOL scores (p all < 0.02). Although in multivariable analysis bilateral pseudophakes had similar VF scores to bilateral aphakes they had significantly better QOL scores (p = 0.001). CONCLUSIONS: Cataract surgery in Pakistan has not led to VF and QOL scores equivalent to those in unoperated individuals with the same levels of visual acuity. The higher proportion of intraocular lens surgery in recent years is likely to improve QOL following cataract surgery. Further focus is needed on rural and illiterate populations, to ensure that they achieve comparable VF/QOL outcomes following surgery