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BMC Medicine Nov 2022We performed phenome-wide Mendelian randomization analysis (MR-PheWAS), two-sample MR analysis, and systemic review to comprehensively explore the health effects of milk...
BACKGROUND
We performed phenome-wide Mendelian randomization analysis (MR-PheWAS), two-sample MR analysis, and systemic review to comprehensively explore the health effects of milk consumption in the European population.
METHODS
Rs4988235 located upstream of the LCT gene was used as the instrumental variable for milk consumption. MR-PheWAS analysis was conducted to map the association of genetically predicted milk consumption with 1081 phenotypes in the UK Biobank study (n=339,197). The associations identified in MR-PheWAS were examined by two-sample MR analysis using data from the FinnGen study (n=260,405) and international consortia. A systematic review of MR studies on milk consumption was further performed.
RESULTS
PheWAS and two-sample MR analyses found robust evidence in support of inverse associations of genetically predicted milk consumption with risk of cataract (odds ratio (OR) per 50 g/day increase in milk consumption, 0.89, 95% confidence interval (CI), 0.84-0.94; p=3.81×10), hypercholesterolemia (OR, 0.91, 95% CI 0.86-0.96; p=2.97×10), and anal and rectal polyps (OR, 0.85, 95% CI, 0.77-0.94; p=0.001). An inverse association for type 2 diabetes risk (OR, 0.92, 95% CI, 0.86-0.97; p=0.003) was observed in MR analysis based on genetic data with body mass index adjustment but not in the corresponding data without body mass index adjustment. The systematic review additionally found evidence that genetically predicted milk consumption was inversely associated with asthma, hay fever, multiple sclerosis, colorectal cancer, and Alzheimer's disease, and positively associated with Parkinson's disease, renal cell carcinoma, metabolic syndrome, overweight, and obesity.
CONCLUSIONS
This study suggests several health effects of milk consumption in the European population.
Topics: Humans; Animals; Mendelian Randomization Analysis; Milk; Diabetes Mellitus, Type 2; Polymorphism, Single Nucleotide; Kidney Neoplasms
PubMed: 36424608
DOI: 10.1186/s12916-022-02658-w -
Survey of Ophthalmology 2023Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including... (Review)
Review
Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including optic atrophy, hearing impairment, and diabetes mellitus. We summarize current literature, define the clinical characteristics, and investigate potential genotype phenotype correlations. A systematic literature search was conducted in electronic databases Pubmed/MEDLINE, EMBACE, and Cochrane Library. We included studies reporting patients with a clinical picture consisting at least 2 typical clinical manifestations of WSF1 disorders and heterozygous mutations in WFS1. In total, 86 patients from 35 studies were included. The most common phenotype consisted of the combination of optic atrophy (87%) and hearing impairment (94%). Diabetes mellitus was seen in 44% of the patients. Nineteen percent developed cataract. Patients with missense mutations in WFS1 had a lower number of clinical manifestations, less chance of developing diabetes insipidus, but a younger age at onset of hearing impairment compared to patients with nonsense mutations or deletions causing frameshift. There were no studies reporting decreased life expectancy. This review shows that, within the spectrum of WFS1-associated disorders or "wolframinopathies," autosomal dominantly inherited WFLS has a relatively mild phenotype compared to autosomal recessive WS. The clinical manifestations and their age at onset are associated with the specific underlying mutations in the WFS1 gene.
Topics: Humans; Hearing Loss; Mutation; Optic Atrophy; Tungsten; Wolfram Syndrome
PubMed: 36764396
DOI: 10.1016/j.survophthal.2023.01.012 -
EClinicalMedicine Apr 2022Vision impairment (VI) can have wide ranging economic impact on individuals, households, and health systems. The aim of this systematic review was to describe and... (Review)
Review
Vision impairment (VI) can have wide ranging economic impact on individuals, households, and health systems. The aim of this systematic review was to describe and summarise the costs associated with VI and its major causes. We searched MEDLINE (16 November 2019), National Health Service Economic Evaluation Database, the Database of Abstracts of Reviews of Effects and the Health Technology Assessment database (12 December 2019) for partial or full economic evaluation studies, published between 1 January 2000 and the search dates, reporting cost data for participants with VI due to an unspecified cause or one of the seven leading causes globally: cataract, uncorrected refractive error, diabetic retinopathy, glaucoma, age-related macular degeneration, corneal opacity, trachoma. The search was repeated on 20 January 2022 to identify studies published since our initial search. Included studies were quality appraised using the British Medical Journal Checklist for economic submissions adapted for cost of illness studies. Results were synthesized in a structured narrative. Of the 138 included studies, 38 reported cost estimates for VI due to an unspecified cause and 100 reported costs for one of the leading causes. These 138 studies provided 155 regional cost estimates. Fourteen studies reported global data; 103/155 (66%) regional estimates were from high-income countries. Costs were most commonly reported using a societal ( = 48) or healthcare system perspective ( = 25). Most studies included only a limited number of cost components. Large variations in methodology and reporting across studies meant cost estimates varied considerably. The average quality assessment score was 78% (range 35-100%); the most common weaknesses were the lack of sensitivity analysis and insufficient disaggregation of costs. There was substantial variation across studies in average treatment costs per patient for most conditions, including refractive error correction (range $12-$201 ppp), cataract surgery (range $54-$3654 ppp), glaucoma (range $351-$1354 ppp) and AMD (range $2209-$7524 ppp). Future cost estimates of the economic burden of VI and its major causes will be improved by the development and adoption of a reference case for eye health. This could then be used in regular studies, particularly in countries with data gaps, including low- and middle-income countries in Asia, Eastern Europe, Oceania, Latin America and sub-Saharan Africa.
PubMed: 35340626
DOI: 10.1016/j.eclinm.2022.101354 -
The Lancet. Global Health Feb 2021To contribute to the WHO initiative, VISION 2020: The Right to Sight, an assessment of global vision impairment in 2020 and temporal change is needed. We aimed to... (Meta-Analysis)
Meta-Analysis
BACKGROUND
To contribute to the WHO initiative, VISION 2020: The Right to Sight, an assessment of global vision impairment in 2020 and temporal change is needed. We aimed to extensively update estimates of global vision loss burden, presenting estimates for 2020, temporal change over three decades between 1990-2020, and forecasts for 2050.
METHODS
We did a systematic review and meta-analysis of population-based surveys of eye disease from January, 1980, to October, 2018. Only studies with samples representative of the population and with clearly defined visual acuity testing protocols were included. We fitted hierarchical models to estimate 2020 prevalence (with 95% uncertainty intervals [UIs]) of mild vision impairment (presenting visual acuity ≥6/18 and <6/12), moderate and severe vision impairment (<6/18 to 3/60), and blindness (<3/60 or less than 10° visual field around central fixation); and vision impairment from uncorrected presbyopia (presenting near vision
FINDINGS
In 2020, an estimated 43·3 million (95% UI 37·6-48·4) people were blind, of whom 23·9 million (55%; 20·8-26·8) were estimated to be female. We estimated 295 million (267-325) people to have moderate and severe vision impairment, of whom 163 million (55%; 147-179) were female; 258 million (233-285) to have mild vision impairment, of whom 142 million (55%; 128-157) were female; and 510 million (371-667) to have visual impairment from uncorrected presbyopia, of whom 280 million (55%; 205-365) were female. Globally, between 1990 and 2020, among adults aged 50 years or older, age-standardised prevalence of blindness decreased by 28·5% (-29·4 to -27·7) and prevalence of mild vision impairment decreased slightly (-0·3%, -0·8 to -0·2), whereas prevalence of moderate and severe vision impairment increased slightly (2·5%, 1·9 to 3·2; insufficient data were available to calculate this statistic for vision impairment from uncorrected presbyopia). In this period, the number of people who were blind increased by 50·6% (47·8 to 53·4) and the number with moderate and severe vision impairment increased by 91·7% (87·6 to 95·8). By 2050, we predict 61·0 million (52·9 to 69·3) people will be blind, 474 million (428 to 518) will have moderate and severe vision impairment, 360 million (322 to 400) will have mild vision impairment, and 866 million (629 to 1150) will have uncorrected presbyopia.
INTERPRETATION
Age-adjusted prevalence of blindness has reduced over the past three decades, yet due to population growth, progress is not keeping pace with needs. We face enormous challenges in avoiding vision impairment as the global population grows and ages.
FUNDING
Brien Holden Vision Institute, Fondation Thea, Fred Hollows Foundation, Bill & Melinda Gates Foundation, Lions Clubs International Foundation, Sightsavers International, and University of Heidelberg.
Topics: Aged; Aged, 80 and over; Blindness; Cataract; Eye Diseases; Female; Forecasting; Glaucoma; Global Burden of Disease; Global Health; Humans; Macular Degeneration; Male; Middle Aged; Presbyopia; Vision, Low; Visual Acuity
PubMed: 33275950
DOI: 10.1016/S2214-109X(20)30425-3 -
American Journal of Ophthalmology Jul 2023To compare the extended depth of focus (EDOF) vs trifocal intraocular lenses (IOLs) in patients undergoing IOL implantation. (Meta-Analysis)
Meta-Analysis Review
PURPOSE
To compare the extended depth of focus (EDOF) vs trifocal intraocular lenses (IOLs) in patients undergoing IOL implantation.
DESIGN
Systematic review and meta-analysis.
METHODS
An electronic search was conducted as per the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines to include studies comparing EDOF vs trifocal IOLs. Refraction and visual acuity were primary outcomes. Secondary outcomes included defocus curves, intraocular aberrations, contrast sensitivity (CS), quality of vision (QoV) questionnaire score, haloes and glare, spectacle independence, and patient satisfaction.
RESULTS
A total of 22 studies enrolling 2200 eyes were identified. Trifocal IOL showed a significant improvement in sphere (mean difference [MD] = -0.23; P = .001) and spherical equivalence (MD = -0.11, P = .0001) compared to EDOF IOL. No difference was observed in cylinder (MD = -0.03, P = .25) or astigmatism. Trifocal IOL had superior near visual acuity outcomes, namely uncorrected near visual acuity (MD = 0.12, P < .00001) and distance-corrected near visual acuity (MD = 0.12, P = .002). Postoperative corrected distance visual acuity (MD = -0.01, P = .01) was significantly improved for the EDOF group, although no difference was noted in postoperative uncorrected distance visual acuity (MD = 0.00, P = .84), uncorrected intermediate visual acuity (MD = 0.01, P = .68) or distance-corrected intermediate visual acuity (MD = -0.01, P = .39). Defocus curve favored trifocal IOLs at near vision and EDOF IOLs at intermediate vision. Ocular aberration, CS, haloes (odds ratio = 0.64, P = .10), glare, and patient satisfaction were not statistically significant between the groups. The trifocal IOL was associated with an improved QoV questionnaire score (MD = 1.24, P = 0.03) and spectacle independence (odds ratio = 0.26, P = .02).
CONCLUSIONS
Trifocal IOLs improved uncorrected near visual acuity compared to EDOF IOLs. Uncorrected distance and intermediate visual acuity, halos, and glare were not statistically different between both groups.
Topics: Humans; Lens Implantation, Intraocular; Lenses, Intraocular; Visual Acuity; Refraction, Ocular; Cataract Extraction; Patient Satisfaction; Prosthesis Design; Phacoemulsification; Pseudophakia
PubMed: 36736751
DOI: 10.1016/j.ajo.2023.01.024 -
PloS One 2017MIGS have been developed as a surgical alternative for glaucomatous patients. (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
MIGS have been developed as a surgical alternative for glaucomatous patients.
PURPOSE
To analyze the change in intraocular pressure (IOP) and glaucoma medications using different MIGS devices (Trabectome, iStent, Excimer Laser Trabeculotomy (ELT), iStent Supra, CyPass, XEN, Hydrus, Fugo Blade, Ab interno canaloplasty, Goniscopy-assisted transluminal trabeculotomy) as a solo procedure or in association with phacoemulsification.
METHODS
Randomized control trials (RCT) and non-RCT (non randomized comparative studies, NRS, and before-after studies) were included. Studies with at least one year of follow-up in patients affected by primary open angle glaucoma, pseudoexfoliative glaucoma or pigmentary glaucoma were considered. Risk of Bias assessment was performed using the Cochrane Risk of Bias and the ROBINS-I tools. The main outcome was the effect of MIGS devices compared to medical therapy, cataract surgery, other glaucoma surgeries and other MIGS on both IOP and use of glaucoma medications 12 months after surgery. Outcomes measures were the mean difference in the change of IOP and glaucoma medication compared to baseline at one and two years and all ocular adverse events. The current meta-analysis is registered on PROSPERO (reference n° CRD42016037280).
RESULTS
Over a total of 3,069 studies, nine RCT and 21 case series with a total of 2.928 eyes were included. Main concerns about risk of bias in RCTs were lack of blinding, allocation concealment and attrition bias while in non-RCTs they were represented by patients' selection, masking of participants and co-intervention management. Limited evidence was found based on both RCTs and non RCTs that compared MIGS surgery with medical therapy or other MIGS. In before-after series, MIGS surgery seemed effective in lowering both IOP and glaucoma drug use. MIGS showed a good safety profile: IOP spikes were the most frequent complications and no cases of infection or BCVA loss due to glaucoma were reported.
CONCLUSIONS
Although MIGS seem efficient in the reduction of the IOP and glaucoma medication and show good safety profile, this evidence is mainly derived from non-comparative studies and further, good quality RCTs are warranted.
Topics: Glaucoma, Open-Angle; Humans; Intraocular Pressure; Minimally Invasive Surgical Procedures; Ophthalmologic Surgical Procedures; Tonometry, Ocular; Treatment Outcome
PubMed: 28850575
DOI: 10.1371/journal.pone.0183142 -
Seminars in Ophthalmology Oct 2021: Blue blocking (BB) lenses, including spectacles and intraocular lenses, work by attenuating short-wavelength light. BB glasses are being marketed with the aim to...
: Blue blocking (BB) lenses, including spectacles and intraocular lenses, work by attenuating short-wavelength light. BB glasses are being marketed with the aim to reduce eye fatigue symptoms when using digital devices, improve sleep quality and potentially confer protection from retinal phototoxicity. BB intraocular lenses following cataract surgery may be implanted because they are thought to prevent age-related macular degeneration (AMD) progression.: The present study is a systematic review aiming to analyze BB lenses clinical efficacy in preventing blue light-related ocular disorders, including AMD progression, eye fatigue, and their impact on sleep quality. We searched Medline, PubMed, Web of Science and the Cochrane Library until May 2020.:Although several studies have been performed investigating BB lenses, clinical efficacy for preventing or attenuating the above-mentioned ocular disorders is often theorical or based on laboratory or animal experiments. To date, there is a lack of consistent evidence for a larger-sclale introduction of BB lenses in the routine clinical practice.
Topics: Animals; Cataract Extraction; Humans; Lens, Crystalline; Lenses, Intraocular; Light; Macular Degeneration
PubMed: 33734926
DOI: 10.1080/08820538.2021.1900283 -
Diabetes/metabolism Research and Reviews Jan 2019Type 2 diabetes (T2D) is a risk factor for cataract development. With T2D prevalence increasing, the burden of cataract-associated vision loss will also increase. We...
Type 2 diabetes (T2D) is a risk factor for cataract development. With T2D prevalence increasing, the burden of cataract-associated vision loss will also increase. We aimed to characterise cataract diabetes-specific risk factors to assist prevention and management strategies. As part of a systematic review, two investigators independently searched online electronic databases according to a predetermined protocol for relevant published data to end-March 2018. Studies were included if they were longitudinal with ≥100 participants, diabetes was defined, a description of cataract assessment was provided, data were from humans, and the reports were in English. Study quality was assessed using the Newcastle Ottawa Scale and GRADE. Of 5255 publications identified, 19 from 13 study populations were included. The overall risk of bias was low. There was between-study variability. Age and glycaemic control were consistently associated with cataract development in T2D, but blood pressure, diabetes duration, sex, and aspirin use were not. Serum lipids and smoking remain possible risk factors, but available data are inconclusive. Glycaemia is the only consistent modifiable risk factor amongst a range of candidate variables. Due to the lack of consistency of the available evidence, and since mortality associated with T2D is declining with the likelihood of increased cataract-associated vision loss, additional well-conducted longitudinal studies are needed to identify modifiable risk factors that could prevent or delay cataract formation.
Topics: Age Factors; Blood Glucose; Cataract; Diabetes Complications; Diabetes Mellitus, Type 2; Humans; Risk Factors
PubMed: 30209868
DOI: 10.1002/dmrr.3073 -
Journal of Clinical Medicine Oct 2020Iridoschisis is a rare condition defined as a separation of the anterior iris stroma from the posterior stroma and muscle layers. In this paper, we review current data... (Review)
Review
Iridoschisis is a rare condition defined as a separation of the anterior iris stroma from the posterior stroma and muscle layers. In this paper, we review current data about the epidemiology, pathophysiology, clinical characteristics and differential diagnoses of this condition and discuss the specificity of surgical treatment of concomitant ocular diseases in iridoschisis patients. Iridoschisis may pose a challenge for both an ophthalmologist in an outpatient setting and an ophthalmic surgeon. Glaucoma, primarily angle-closure glaucoma, is the most often described condition concomitant to iridoschisis. Other ocular abnormalities found relatively often in iridoschisis patients include cataract, lens subluxation and corneal abnormalities. Special attention has been paid to potential complications of cataract surgery and prevention thereof. Beside addressing the practical aspects, we point to discrepancies and suggest topics for further investigation.
PubMed: 33081187
DOI: 10.3390/jcm9103324 -
PloS One 2022A meta-analytic approach was used to identify potential risk factors for dry eye syndrome. PubMed, Embase, and the Cochrane library were systematically searched for... (Meta-Analysis)
Meta-Analysis
A meta-analytic approach was used to identify potential risk factors for dry eye syndrome. PubMed, Embase, and the Cochrane library were systematically searched for studies investigated the risk factors for dry eye syndrome from their inception until September 2021. The odds ratio (OR) with 95% confidence interval (CI) was calculated using the random-effects model. Forty-eight studies comprising 493,630 individuals were included. Older age (OR: 1.82; P<0.001), female sex (OR: 1.56; P<0.001), other race (OR: 1.27; P<0.001), visual display terminal use (OR: 1.32; P<0.001), cataract surgery (OR: 1.80; P<0.001), contact lens wear (OR: 1.74; P<0.001), pterygium (OR: 1.85; P = 0.014), glaucoma (OR: 1.77; P = 0.007), eye surgery (OR: 1.65; P<0.001), depression (OR: 1.83; P<0.001), post-traumatic stress disorder (OR: 1.65; P<0.001), sleep apnea (OR: 1.57; P = 0.003), asthma (OR: 1.43; P<0.001), allergy (OR: 1.38; P<0.001), hypertension (OR: 1.12; P = 0.004), diabetes mellitus (OR: 1.15; P = 0.019), cardiovascular disease (OR: 1.20; P<0.001), stroke (OR: 1.32; P<0.001), rosacea (OR: 1.99; P = 0.001), thyroid disease (OR: 1.60; P<0.001), gout (OR: 1.40; P<0.001), migraines (OR: 1.53; P<0.001), arthritis (OR: 1.76; P<0.001), osteoporosis (OR: 1.36; P = 0.030), tumor (OR: 1.46; P<0.001), eczema (OR: 1.30; P<0.001), and systemic disease (OR: 1.45; P = 0.007) were associated with an increased risk of dry eye syndrome. This study reported risk factors for dry eye syndrome, and identified patients at high risk for dry eye syndrome.
Topics: Contact Lenses; Dry Eye Syndromes; Female; Humans; Odds Ratio; Risk Factors; Stress Disorders, Post-Traumatic
PubMed: 35984830
DOI: 10.1371/journal.pone.0271267