Correctable vision impairment caused by refractive error is common in the United States population. We estimated the direct costs of providing eyeglasses to all Americans (age> or =12) who need refractive correction to achieve good distance vision.
Cross-sectional study of a nationally representative sample of United States citizens.
Participants in the 1999-2002 National Health and Nutrition Examination Survey (NHANES), age > or = 12 years. The NHANES examines a nationally representative sample of the U.S. noninstitutionalized, civilian population.
Presenting and corrected visual acuity data were obtained using an autorefractor from 13,211 (93.0%) of the 14,203 participants who visited the NHANES Mobile Examination Center in 1999 through 2002. Need for refractive correction was defined by current use of corrective lenses for distance vision, improvement to good visual acuity following autorefractor correction (using several cutpoints to define good visual acuity), or both.
Estimates of direct cost for refractive correction (1 pair of complete eyeglasses and a refraction examination) were computed based on Centers for Medicare & Medicaid Services fee schedules for 2000 and also based on expenditure data from the Medical Expenditure Panel Survey.
The NHANES results indicate that >110 million Americans could or do achieve normal vision with refractive correction. The annual direct cost of correcting distance vision impairment is at least $3.8 billion. Of this amount, $780 million represents the annual cost of providing distance vision correction for persons > age 65.
Correctable vision impairment due to refractive error is common in the United States population. These cost estimates provide useful information for public health endeavors aimed at provision of refractive correction to those who need it.
"Additionally, more than 85% of Hong Kong Chinese school children aged between 13 and 15 years are myopic . The economic impact of refractive error management can be substantial- vision impairment correction costs account for 3.8 to 7.2 billion dollars annually in the USA alone . "
[Show abstract][Hide abstract] ABSTRACT: Myopia, or nearsightedness, is highly prevalent in Asian countries and is considered a serious public health issue globally. High-grade myopia can predispose individuals to myopic maculopathy, premature cataracts, retinal detachment, and glaucoma. A recent study implicated zinc finger protein 644 isoform 1 (ZNF644) variants with non-syndromic high-grade myopia in a Chinese-Asian population. Herein we focused on investigating the role for ZNF644 variants in high-grade myopia in a United States (US) cohort.
DNA from a case cohort of 131 subject participants diagnosed with high-grade myopia was screened for ZNF644 variants. Spherical refractive error of -≤-6.00 diopters (D) in at least one eye was defined as affected. All coding, intron/exon boundaries were screened using Sanger sequencing. Single nucleotide allele frequencies were determined by screening 672 ethnically matched controls.
Sequencing analysis did not detect previously reported mutations. However, our analysis identified 2 novel single nucleotide variants (c.725C>T, c.821A>T) in 2 high-grade myopia individuals- one Caucasian and one African American, respectively. These variants were not found in normal controls. A rare variant - dbsSNP132 (rs12117237→c.2119A>G) - with a minor allele frequency of 0.2% was present in 6 additional cases, but was also present in 5 controls.
Our study has identified two novel variants in ZNF644 associated with high-grade myopia in a US cohort. Our results suggest that ZNF644 may play a role in myopia development.
"Myopia affects 25% of the Western world, making this condition the most common eye disorder in the West and constituting a significant public health and economic problem [1,2]. The cost of optical correction to provide clear distinct vision is considerable. "
[Show abstract][Hide abstract] ABSTRACT: Recent work has suggested that insulin-like growth factor 1 (IGF-1) gene polymorphisms are genetically linked with high-grade myopia (HM), which is a complex-trait eye disorder in which numerous candidate loci and genes are thought to play a role. We investigated whether the IGF-1 single nucleotide polymorphisms (SNPs) rs6214, rs10860860, and rs2946834 are associated with HM (≤-6.0 diopters [D]) and any myopia (≤-0.5 D) phenotype in Polish families.
Forty-two multiplex HM Polish families, of whom 127 had HM, participated in the study. All of the family members (n=306) underwent a detailed ophthalmic examination, including axial length measurements. The IGF-1 SNPs rs6214, rs10860860, and rs2946834 were evaluated by PCR-RFLP and direct sequencing methods. Both Family-Based Association Test (FBAT) and family-based Pedigree Disequilibrium Test (PDT) were used to examine the potential association of the IGF-1 SNPs rs6214, rs10860860, and rs2946834 with HM or any myopia. To determine the distribution of the HM-associated SNPs rs6214 and rs10860860, 543 unrelated individuals from the general Polish population were also analyzed.
We found no significant association between the IGF-1 SNPs rs6214, rs10860860, and rs2946834 and HM or any myopia phenotype in Polish HM families. In the general Polish population, the minor allele frequencies of the SNPs rs6214 and rs10860860 did not deviate significantly from the distribution reported for European populations (p=0.629). In the FBAT analysis under the dominant model, the haplotype consisted of T allele of rs10860860, with C allele of rs2946834 of IGF-1 was found less frequently transmitted to HM individuals (p=0.0065), pointing to a nonassociated or protective haplotype.
Our results do not support recent studies reporting an association of the SNPs rs6214, rs10860860, and rs2946834 in the IGF-1 gene with HM and any myopia phenotypes. Further replication studies involving other populations are needed to investigate the possible role of IGF-1 as a potential myopia candidate gene.
"Myopia affects 33.1% of the American population greater than 12 years of age , resulting in dependence on optical correction and/or treatment with refractive surgery. The estimated economic impact of correcting myopic adults in the United States is $3.8-7.2 billion annually . In addition to financial burdens, studies have shown decreased quality of life associated with higher levels of myopia in patients wearing spectacle correction and/or contact lenses . "
[Show abstract][Hide abstract] ABSTRACT: Hepatocyte growth factor (HGF) and hepatocyte growth factor receptor (C-MET) genes have previously been reported to be associated with myopia in Asian family-based and case-control association studies, respectively. We examined whether these genes were associated with myopia in a Caucasian family dataset biased towards high myopia.
Participating families had at least one offspring with high myopia (< or = -5.00 diopters [D]). Genotyping was performed with tagging single nucleotide polymorphisms (SNPs) for each candidate gene using Taqman allelic discrimination assays. The data were analyzed with two family-based association methods, the pedigree disequilibrium test (PDT) and the association in the presence of linkage (APL) test. Analyses compared 1) high myopia (<-5.00 D), 2) mild to moderate myopia (-0.50 to -5.00 D), 3) any myopia (<-0.50 D) and 4) extreme high myopia (< or =-10.00 D) versus emmetropia using refractive error as either sphere (SPH) or spherical equivalent (SE=sphere + [cylinder/2]). Bonferroni correction was applied to adjust for multiple testing leading to significance levels of 0.0125 for HGF and 0.008 for C-MET. Two and three-marker sliding window haplotype association tests using APL were also performed for HGF markers. Significance levels for haplotype association testing were set at 0.01 for the global tests, and 0.007 for the three marker haplotype specific tests and 0.0125 for the two marker haplotype specific tests.
A total of 146 multiplex families consisting of 649 Caucasian subjects were included. The HGF SNP, rs3735520 (APL p=0.002768 for SPH and 0.005609 for SE), and the haplotypes, rs2286194-rs3735520-rs17501108 (APL p=0.007403 for SPH and 0.062685 for SE) and rs12536657-rs2286194 (APL p=0.004219 for SPH and 0.00518 for SE), showed significant association with mild to moderate myopia versus emmetropia. A promising association between extreme high myopia and the HGF SNP, rs2286194, was also found (APL p=0.005763 for SPH and 0.004103 for SE). No evidence of association was found in the SNPs tested for C-MET.
This study supports a strong association between the mild to moderate myopia group and the HGF SNP rs3735520 and the HGF haplotypes rs2286194-rs3735520-rs17501108 and rs12536657-rs2286194, and a moderate association of the extreme high myopia with rs2286194. C-MET polymorphism statistical associations with myopia in an Asian study were not replicated in our Caucasian cohort. HGF may be a potential myopia candidate gene for further investigation.
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