Genetic and environmental contributions to strabismus and phoria: Evidence from twins

Wilmer, Jeremy; Backus, Benjamin T.

doi:10.1016/j.visres.2009.08.006

Cited by 30 publications

(30 citation statements)

References 57 publications

(131 reference statements)

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“…Given the distinctly larger genetic contribution to eso-deviation (as defined in this study), we feel this is an important group to focus limited resources on in future gene-finding efforts. While there is a relatively large body of twin strabismus literature extending over the past 30 years (Wilmer & Backus, 2009), few studies have attempted to evaluate these data in accordance with modern twin analytical research techniques (Neale & Cardon, 1992). Based on family history and familial concordance, several studies have found that the magnitude of familial contribution to strabismus varies based on the type of deviation, with eso-deviation being most significant (Abrahamsson et al, 1999;Matsuo et al, 2002;Ziakas et al, 2002).…”

Section: Discussionmentioning

confidence: 99%

Heritability of Strabismus: Genetic Influence Is Specific to Eso-Deviation and Independent of Refractive Error

et al. 2012

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Strabismus represents a complex oculomotor disorder characterized by the deviation of one or both eyes and poor vision. A more sophisticated understanding of the genetic liability of strabismus is required to guide searches for associated molecular variants. In this classical twin study of 1,462 twin pairs, we examined the relative influence of genes and environment in comitant strabismus, and the degree to which these influences can be explained by factors in common with refractive error. Participants were examined for the presence of latent ('phoria') and manifest ('tropia') strabismus using cover-uncover and alternate cover tests. Two phenotypes were distinguished: eso-deviation (esophoria and esotropia) and exo-deviation (exophoria and exotropia). Structural equation modeling was subsequently employed to partition the observed phenotypic variation in the twin data into specific variance components. The prevalence of eso-deviation and exo-deviation was 8.6% and 20.7%, respectively. For eso-deviation, the polychoric correlation was significantly greater in monozygotic (MZ) (r = 0.65) compared to dizygotic (DZ) twin pairs (r = 0.33), suggesting a genetic role (p = .003). There was no significant difference in polychoric correlation between MZ (r = 0.55) and DZ twin pairs (r = 0.53) for exo-deviation (p = .86), implying that genetic factors do not play a significant role in the etiology of exo-deviation. The heritability of an eso-deviation was 0.64 (95% CI 0.50-0.75). The additive genetic correlation for eso-deviation and refractive error was 0.13 and the bivariate heritability (i.e., shared variance) was less than 1%, suggesting negligible shared genetic effect. This study documents a substantial heritability of 64% for eso-deviation, yet no corresponding heritability for exo-deviation, suggesting that the genetic contribution to strabismus may be specific to eso-deviation. Future studies are now needed to identify the genes associated with eso-deviation and unravel their mechanisms of action.

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Section: Discussionmentioning

confidence: 99%

Heritability of Strabismus: Genetic Influence Is Specific to Eso-Deviation and Independent of Refractive Error

et al. 2012

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“…Recently, researchers have examined heritability of visual processing using modern behavioural-genetic methods (Wilmer, 2008). Examples of this work include studies reporting strong and significant heritability for strabismus, human face recognition, and refractive error, but weak heritability for phoria or aesthetic preferences for faces (Germine et al, 2015; Sanfilippo et al, 2012; Wilmer & Backus, 2009; Wilmer, Germine, Chabris, et al, 2010; Wilmer, Germine, Loken, et al, 2010; Yovel, Wilmer, & Duchaine, 2014). …”

Section: The Value Of Research On Individual Differencesmentioning

confidence: 99%

Individual differences in visual science: What can be learned and what is good experimental practice?

et al. 2017

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We all pass out our lives in private perceptual worlds. The differences in our sensory and perceptual experiences often go unnoticed until there emerges a variation (such as ‘The Dress’) that is large enough to generate different descriptions in the coarse coinage of our shared language. In this essay, we illustrate how individual differences contribute to a richer understanding of visual perception, but we also indicate some potential pitfalls that face the investigator who ventures into the field.

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“…Previous studies have identified that ethnicity, family history, genetic conditions, low birthweight and prematurity were risk factors for strabismus (Taira et al. ; Wilmer & Backus ; Torp‐Pedersen et al. b; Gulati et al.…”

Section: Introductionmentioning

confidence: 99%

“…Previous studies have identified that ethnicity, family history, genetic conditions, low birthweight and prematurity were risk factors for strabismus (Taira et al 2003;Wilmer & Backus 2009;Torp-Pedersen et al 2010b;Gulati et al 2014;Bruce & Santorelli 2016). In recent decades, an increasing number of studies have been conducted to explore the relationship between smoking and eye-related diseases.…”

Section: Introductionmentioning

confidence: 99%

Maternal smoking during pregnancy and the risk of strabismus in offspring: a meta‐analysis

Yang

Wang

Gan

et al. 2018

Acta Ophthalmologica

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The effect of maternal smoking during pregnancy on strabismus in offspring remains unclear. We conducted a meta‐analysis to summarize epidemiological evidences on the association between maternal smoking during pregnancy and the risk of offspring strabismus. Eligible studies were searched from the PubMed, Ovid, Embase and CNKI databases up to May 2018. The qualities of included articles were assessed with the Newcastle–Ottawa Scale and the assessment scale recommended by the Agency for Healthcare Research and Quality. Odds ratios (ORs) corresponding with its 95% confidence intervals (CIs) were pooled to estimate the effects of maternal cigarette smoking on the risk of offspring strabismus. Subgroup analyses and meta‐regression were performed to explore the potential sources of heterogeneity. The Begg's test and Egger's test were used to assess the publication bias. Eleven articles involving 4,833 patients with strabismus were included. The pooled OR showed that maternal smoking during pregnancy was significantly associated with strabismus in offspring (OR = 1.46, 95% CI = 1.32–1.60). Compared with less than 10 cigarettes per day (OR = 1.17, 95% CI = 1.06–1.29), maternal smoking 10 cigarettes or more per day during pregnancy significantly increased the risk of offspring strabismus (OR = 1.79, 95% CI = 1.39–2.31). The risk of developing esotropia and exotropia for smoking pregnant women, respectively, increased by 65% (OR = 1.65, 95% CI = 1.31–2.09 and OR = 1.65, 95% CI = 1.24–2.19) than those who did not smoke during pregnancy. Additionally, the increased risk of maternity smoking associated with offspring strabismus was stable across all subgroup analyses. Overall, maternal smoking during pregnancy was associated with a significantly increased risk of offspring strabismus and the result was persistent in subgroup analyses, suggesting the importance in changing smoking habit or smoking cessation for women who are pregnant or preparing to.

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Genetic and environmental contributions to strabismus and phoria: Evidence from twins

Cited by 30 publications

References 57 publications

Heritability of Strabismus: Genetic Influence Is Specific to Eso-Deviation and Independent of Refractive Error

Heritability of Strabismus: Genetic Influence Is Specific to Eso-Deviation and Independent of Refractive Error

Individual differences in visual science: What can be learned and what is good experimental practice?

Maternal smoking during pregnancy and the risk of strabismus in offspring: a meta‐analysis

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