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

Sanfilippo, Paul; Hammond, Christopher J.; Staffieri, Sandra E; Kearns, Lisa S.; Liew, Shiao Hui Melissa; Barbour, Julie M.; Hewitt, Alex W.; Ge, Dongliang; Snieder, Harold; MacKinnon, Jane R.; Brown, Shayne A.; Lorenz, Birgit; Spector, Tim D.; Martin, Nicholas G.; Wilmer, Jeremy; Mackey, David A.

doi:10.1017/thg.2012.22

Cited by 28 publications

(23 citation statements)

References 41 publications

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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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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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“…In accommodative esotropia, the risk decreases to 7.5% for second degree relatives and to 4.8% for third degree relatives. In twin studies, it has been shown that there is a specific genetic influence for eso-deviation which is independent of the refractive error (Sanfilippo et al, 2012). The heritability of eso-deviation is estimated as 64% in a cohort of 1462 twin pairs with a prevalence of 8.6% of eso-deviation, the correlation being significantly greater in monozygotic twins ( r = 0.65) than in dizygotic twins ( r = 0.33).…”

Section: Peripheral and Genetic Origins Of Strabismusmentioning

confidence: 99%

Origins of strabismus and loss of binocular vision

Quoc

Milleret

2014

Front. Integr. Neurosci.

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Strabismus is a frequent ocular disorder that develops early in life in humans. As a general rule, it is characterized by a misalignment of the visual axes which most often appears during the critical period of visual development. However other characteristics of strabismus may vary greatly among subjects, for example, being convergent or divergent, horizontal or vertical, with variable angles of deviation. Binocular vision may also vary greatly. Our main goal here is to develop the idea that such “polymorphy” reflects a wide variety in the possible origins of strabismus. We propose that strabismus must be considered as possibly resulting from abnormal genetic and/or acquired factors, anatomical and/or functional abnormalities, in the sensory and/or the motor systems, both peripherally and/or in the brain itself. We shall particularly develop the possible “central” origins of strabismus. Indeed, we are convinced that it is time now to open this “black box” in order to move forward. All of this will be developed on the basis of both presently available data in literature (including most recent data) and our own experience. Both data in biology and medicine will be referred to. Our conclusions will hopefully help ophthalmologists to better understand strabismus and to develop new therapeutic strategies in the future. Presently, physicians eliminate or limit the negative effects of such pathology both on the development of the visual system and visual perception through the use of optical correction and, in some cases, extraocular muscle surgery. To better circumscribe the problem of the origins of strabismus, including at a cerebral level, may improve its management, in particular with respect to binocular vision, through innovating tools by treating the pathology at the source.

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“…1 Both genetic and environmental factors contribute to strabismus, 2–4 but in contrast to the rare forms of congenital strabismus, 5 the genetics and molecular mechanisms of common strabismus are not well understood. 6 The etiology of strabismus involves multiple components of the oculomotor system, from the extraocular muscles (EOMs) to visual cortex.…”

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Altered Protein Composition and Gene Expression in Strabismic Human Extraocular Muscles and Tendons

Agarwal

Feng

Altick

et al. 2016

Invest. Ophthalmol. Vis. Sci.

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PurposeTo determine whether structural protein composition and expression of key regulatory genes are altered in strabismic human extraocular muscles.MethodsSamples from strabismic horizontal extraocular muscles were obtained during strabismus surgery and compared with normal muscles from organ donors. We used proteomics, standard and customized PCR arrays, and microarrays to identify changes in major structural proteins and changes in gene expression. We focused on muscle and connective tissue and its control by enzymes, growth factors, and cytokines.ResultsStrabismic muscles showed downregulation of myosins, tropomyosins, troponins, and titin. Expression of collagens and regulators of collagen synthesis and degradation, the collagenase matrix metalloproteinase (MMP)2 and its inhibitors, tissue inhibitor of metalloproteinase (TIMP)1 and TIMP2, was upregulated, along with tumor necrosis factor (TNF), TNF receptors, and connective tissue growth factor (CTGF), as well as proteoglycans. Growth factors controlling extracellular matrix (ECM) were also upregulated. Among 410 signaling genes examined by PCR arrays, molecules with downregulation in the strabismic phenotype included GDNF, NRG1, and PAX7; CTGF, CXCR4, NPY1R, TNF, NTRK1, and NTRK2 were upregulated. Signaling molecules known to control extraocular muscle plasticity were predominantly expressed in the tendon rather than the muscle component. The two horizontal muscles, medial and lateral rectus, displayed similar changes in protein and gene expression, and no obvious effect of age.ConclusionsQuantification of proteins and gene expression showed significant differences in the composition of extraocular muscles of strabismic patients with respect to important motor proteins, elements of the ECM, and connective tissue. Therefore, our study supports the emerging view that the molecular composition of strabismic muscles is substantially altered.

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

Cited by 28 publications

References 41 publications

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

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

Origins of strabismus and loss of binocular vision

Altered Protein Composition and Gene Expression in Strabismic Human Extraocular Muscles and Tendons

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