Chromosomes 4q28.3 and 7q31.2 as New Susceptibility Loci for Comitant Strabismus

Shaaban, Sherin; Matsuo, Toshihiko; Fujiwara, Hidenori; Itoshima, Emi; Furuse, Takashi; Hasebe, Shinji; Zhang, Qingrun; Ott, Jürg; Ohtsuki, Hiroshi

doi:10.1167/iovs.08-2437

Cited by 38 publications

(37 citation statements)

References 27 publications

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“…Genome-wide linkage analysis of comitant strabismus has yielded relatively few chromosomal susceptibility loci. An initial study found loci at chromosomes 7p22.1 (Parikh et al, 2003) and a more recent study (Shaaban et al, 2009), extending previous work by Fujiwara et al (2003), identified loci at 4q28.3 and 7q3.1. This second study, conducted in 55 Japanese families with at least two cases of comitant strabismus, did not distinguish these cases based on the direction of their deviation.…”

Section: Discussionsupporting

confidence: 80%

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: Discussionsupporting

confidence: 80%

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

et al. 2012

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“…Another study from Japan has been done to localize the chromosomal susceptibility loci for comitant strabismus. [9] They found multiple susceptibility loci for comitant strabismus. Chromosome 8q[10] has been shown to be associated with DRS.…”

Section: Etiologymentioning

confidence: 99%

What's new for us in strabismus?

Sharma

Gaur

Phuljhele

et al. 2017

Indian J Ophthalmol

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Strabismus is one of the most challenging subspecialties encountered in the field of ophthalmology. The concept of etiology of strabismus is being advanced with the development of newer imaging modalities and increased understanding of the genetics of strabismus. Imaging is also being used to aid in the planning of strabismus surgery. Newer horizons are being explored in the amblyopia management. The good old eye-pad is being replaced with the iPad. Early detection of loss of stereopsis is being used to decide the timing for strabismus surgery. Improvement of binocular summation has been discovered as a benefit of corrective strabismus surgery. Newer surgical techniques such as new transposition procedures are being developed to correct complex strabismus. Strabismus surgeries aided by adjustable sutures have increased the precision of a strabismologist. A new light has been thrown on the psychosocial impact of strabismus. A present-day strabismologist has advanced from the goal of ocular alignment to a bigger perspective “to regain the paradise lost: stereopsis.”

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“…In Japan, Matsuo and colleagues recruited 55 families in which comitant strabismus was present in at least two family members. 10 Their linkage analysis identified loci at 4q28.3 and 7q31.2. Some of the genes that lie within these regions encode proteins expressed in the brain such as neuronal cell adhesion molecule, as might be expected from theories purporting that strabismus is caused by a neurological deficit that compromises the capacity for binocular fusion and stereopsis.…”

Section: Linkage Analysismentioning

confidence: 99%

An Update on the Genetics of Comitant Strabismus

Kruger

Mansouri

Cestari

2013

Seminars in Ophthalmology

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Genetics play a significant role in the development of comitant strabismus and elucidating the relevant mechanisms that cause it may lead to the development of new therapeutic options. The genetics of strabismus are complex and involve the interactions of multiple genes. This article reviews the progress that has been made in the understanding of the genetic causes of comitant strabismus including linkage studies that have identified a variety of candidate sites, RNA and protein studies that have identified genes with altered regulation, and a study that establishes a role for genetic imprinting in comitant strabismus.

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Chromosomes 4q28.3 and 7q31.2 as New Susceptibility Loci for Comitant Strabismus

Abstract: This study suggests multiple susceptibility loci for comitant strabismus. The loci at chromosomes 4q28.3 and 7q31.2 show a significant evidence of linkage.

Cited by 38 publications

References 27 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

What's new for us in strabismus?

An Update on the Genetics of Comitant Strabismus

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