Aggregation of Refractive Error and 5-Year Changes in Refractive Error Among Families in the Beaver Dam Eye Study

Lee, Kristine E.; Klein, Barbara E.K.; Klein, Ronald; Fine, Jason P.

doi:10.1001/archopht.119.11.1679

Cited by 52 publications

(54 citation statements)

References 24 publications

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“…It would seem that this high figure reflects the heritability of the various biometric factors, such as axial length and radius of corneal curvature, that determine hyperopia: Lyhne et al have reported heritability figures of 89% to 94% for various biometric determinants of refractive error in a Danish twin study. 30 Our results are consistent with those of Lee et al, 15 who, using similar statistical methods, reported a sibling recurrence OR of 2.87 for hyperopia. It should be noted that this group defined hyperopia as a mean SE refractive error of +0.50 D. Our estimated sibling recurrence OR for a threshold of +1.00 D, the lowest threshold we used, was 2.72.…”

Section: Discussionsupporting

confidence: 91%

“…13 Evidence exists suggesting that hyperopia may be under strong genetic control. 14,15 Twin studies in England have suggested that hyperopia, treated as a binary trait, has a heritability of 89%, virtually the same as myopia. 14 Biometric traits such as axial length and radius of corneal curvature, which determine hyperopia, also demonstrated heritability in the 80% to 90% range in the British twin study.…”

mentioning

confidence: 99%

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Familial aggregation of hyperopia in an elderly population of siblings in Salisbury, Maryland

Wojciechowski¹,

Congdon²,

Bowie³

et al. 2005

Ophthalmology

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Purpose-To determine whether hyperopia aggregates in families in an older mixed-race population.Design-Cross-sectional familial aggregation study using sibships.Methods-We recruited 759 subjects (mean age, 73.4 years) in 241 families through the population-based Salisbury Eye Evaluation study. Subjects underwent noncycloplegic refraction if best-corrected visual acuity (BCVA) was ≤20/40, had lensometry to measure their currently worn spectacles if BCVA was >20/40 with spectacles, or were considered to be plano (refraction of zero) if the BCVA was >20/40 without spectacles. Preoperative refraction from medical records was used for bilaterally pseudophakic subjects.Results-Utilizing hyperopia cutoffs from 1.00 to 2.50 diopters, age-, race-, and gender-adjusted odds ratios for hyperopia with an affected sibling ranged from 2.72 (95% confidence interval [CI], 1.84-4.01) to 4.87 (95% CI, 2.54-9.30). The odds of hyperopia increased with age until 75 years, after which they remained relatively constant. Black men were significantly less likely to be hyperopic than white men, white women, or black women.Conclusions-Hyperopia appears to be under strong genetic control in this older population.Hyeropia, or farsightedness, describes the refractive state where the focal point of light entering the eye is behind the retina, due to a short axial length relative to the eye's optical system. Hyperopia of >3.0 diopters (D) is estimated to affect 11.8 million persons over the age of 40 years in the United States, or 9.9% of the U.S. population. 1 Though the process of accommodation allows a number of these individuals to see normally without refractive correction, many others require spectacle, contact lens, or surgical correction, with the attendant risk of bacterial keratitis 2 or infection due to surgical correction of refractive error. [3][4][5] Additionally, children with high levels of hyperopia are at risk for accommodative esotropia, a condition that, if untreated, may result in amblyopia, impaired stereoscopic vision, and a significant reduction in vision-related functional status. 6 Although the number of children with accommodative esotropia is not well known, strabismus has been estimated to affect between 0.5% and 4% of children. [7][8][9][10] Esodeviations comprise >50% of this, 11 with refractive accommodative esotropia clearly playing a significant role. Evidence exists suggesting that hyperopia may be under strong genetic control. 14,15 Twin studies in England have suggested that hyperopia, treated as a binary trait, has a heritability of 89%, virtually the same as myopia. 14 Biometric traits such as axial length and radius of corneal curvature, which determine hyperopia, also demonstrated heritability in the 80% to 90% range in the British twin study. However, genetic studies of hyperopia have been far fewer than for myopia. A small number of genetic conditions have been identified that are characterized by hyperopia in conjunction with ocular 16 or systemic 17 abnormalities. To the best of our knowledge...

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Section: Discussionsupporting

confidence: 91%

mentioning

confidence: 99%

Familial aggregation of hyperopia in an elderly population of siblings in Salisbury, Maryland

Wojciechowski¹,

Congdon²,

Bowie³

et al. 2005

Ophthalmology

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“…Lee and colleagues 101 investigated the refractive errors of a large population of families in the Beaver Dam eye study (440 family groups). While strong aggregation of myopia and hyperopia was found among siblings in this study (suggesting a potential genetic influence on these refractive errors), minimal associations were found between family members for astigmatism.…”

Section: Genetics and Astigmatismmentioning

confidence: 99%

“…99,100 Other studies favour a stronger environmental influence. [96][97][98]101 It would appear that both genetic and environmental factors have roles in the development of astigmatism. The exact nature of these mechanisms is still not fully understood.…”

Section: Genetics and Astigmatismmentioning

confidence: 99%

A review of astigmatism and its possible genesis

Read

Collins

Carney

2007

Clinical and Experimental Optometry

230

205

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Astigmatism is a refractive condition encountered commonly in clinical practice. This review presents an overview of research that has been carried out examining various aspects of this refractive error. We examine the components of astigmatism and the research into the prevalence and natural course of astigmatic refractive errors throughout life. The prevalence of astigmatism in various ethnic groups and diseases and syndromes is also discussed. We highlight the extensive investigations that have been conducted into the possible aetiology of astigmatism, however, no single model or theory of the development of astigmatism has been proven conclusively. Theories of the development of astigmatism based on genetics, extraocular muscle tension, visual feedback and eyelid pressure are considered. Observations and evidence from the literature supporting and contradicting these hypotheses are presented. Recent advances in technology such as wavefront sensors and videokeratoscopes have led to an increased understanding of ocular astigmatism and with continued improvements in technology, our knowledge of astigmatism and its genesis should continue to grow.

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“…Epidemiological surveys show that outdoor activity reduces the prevalence of myopia, decreasing the risk of myopia associated with shortdistance work (8,9). Myopia often exhibits apparent familial aggregation (10)(11)(12), and the number of myopic parents is significantly correlated with myopic onset and progression in children (13). Twin studies and population-based epidemiological investigations show that genetic factors significantly contribute to the development of myopia (6,14,15), particularly HM (5).…”

mentioning

confidence: 99%

Trio-based exome sequencing arrests de novo mutations in early-onset high myopia

Jin

Huang

et al. 2017

Proc. Natl. Acad. Sci. U.S.A.

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The etiology of the highly myopic condition has been unclear for decades. We investigated the genetic contributions to early-onset high myopia (EOHM), which is defined as having a refraction of less than or equal to −6 diopters before the age of 6, when children are less likely to be exposed to high educational pressures. Trios (two nonmyopic parents and one child) were examined to uncover pathogenic mutations using whole-exome sequencing. We identified parent-transmitted biallelic mutations or de novo mutations in asyet-unknown or reported genes in 16 probands. Interestingly, an increased rate of de novo mutations was identified in the EOHM patients. Among the newly identified candidate genes, a BSG mutation was identified in one EOHM proband. Expanded screening of 1,040 patients found an additional four mutations in the same gene. Then, we generated Bsg mutant mice to further elucidate the functional impact of this gene and observed typical myopic phenotypes, including an elongated axial length. Using a trio-based exonic screening study in EOHM, we deciphered a prominent role for de novo mutations in EOHM patients without myopic parents. The discovery of a disease gene, BSG, provides insights into myopic development and its etiology, which expands our current understanding of high myopia and might be useful for future treatment and prevention.early-onset high myopia | de novo mutations | BSG | rare inherited mutations

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Aggregation of Refractive Error and 5-Year Changes in Refractive Error Among Families in the Beaver Dam Eye Study

Cited by 52 publications

References 24 publications

Familial aggregation of hyperopia in an elderly population of siblings in Salisbury, Maryland

Familial aggregation of hyperopia in an elderly population of siblings in Salisbury, Maryland

A review of astigmatism and its possible genesis

Trio-based exome sequencing arrests de novo mutations in early-onset high myopia

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