Epidemiology of Intermittent Exotropia in Preschool Children in China

Pan, Chen-Wei; Zhu, Hui; Yu, Jiajia; Ding, Hui; Bai, Jing; Chen, Ji; Yu, Rongbin; Hu, Liu

doi:10.1097/opx.0000000000000754

Cited by 65 publications

(58 citation statements)

References 27 publications

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“…Population-based studies show that the familial clustering of strabismus has been observed, and the incidence of specific types of strabismus differs, in different racial groups, which suggests that the etiology of strabismus has genetic factors [3–8]. The prevalence of intermittent exotropia was 3.24% in studies in China [2,9,10]. …”

Section: Introductionmentioning

confidence: 99%

Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing

et al. 2017

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BackgroundThe etiology of strabismus has a genetic component. Our study aimed to localize the candidate causative gene mutant in a Chinese family with strabismus and to describe its underlying etiology.Material/MethodsGenomic DNA was extracted from the affected individual and his parents in a Chinese pedigree with strabismus. The resulting exomes were sequenced by whole-exome sequencing. After variant calling and filtering, the candidate causative gene mutations were selected for the rarity and predicted damaging effect, which complied with the model of recessive disease transmission.ResultsWe examined a Chinese strabismus pedigree with the parents unaffected and 2 offspring affected. Whole-exome sequencing and bioinformatics filtering identified 2 variants including Abelson helper integration site 1 (AHI1) gene and nebulin (NEB) gene. The variant in the AHI1 gene, c.A3257G (p.E1086G), and the altered amino acid had a damaging effect on the encoded protein predicted by Polyphen2. Moreover, this change was located in the conserved SH3 domain of AHI1. Biallelic pathogenic variant in AHI1 gene can cause Joubert syndrome-related disorders with oculomotor apraxia characteristics. Additionally, c.A914G mutation was found in nebulin (NEB) gene. Therefore, we concluded that AHI1 c.3257A>G and NEB c.914 A>G were potential causal variants in this strabismus pedigree.ConclusionsWe detected an AHI1 homozygous mutation in the affected individual. Whole-exome sequencing is a powerful way to identify causally relevant genes, improving the understanding of this disorder.

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Section: Introductionmentioning

confidence: 99%

Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing

et al. 2017

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“…Strabismic amblyopia has also been reported to be uncommon in children from other East Asian countries, including Singapore (15%) and Korea (12.8%). 12,13 Studies from Asia and the United States suggest that intermittent exotropia is the most prevalent subtype of exotropia, 14,15 and intermittent exotropia accounted for 51.7% of cases of exotropia in a study of patients aged <19 years. 14 Interestingly, relatively large numbers of strabismic amblyopes were reported in studies outside of Asia, with 38% of amblyopic children in North America 16 and 19% of amblyopic adults in Australia 1 having the strabismic subtype.…”

Section: Discussionmentioning

confidence: 99%

Incidence and risk of attention‐deficit hyperactivity disorder in children with amblyopia: A nationwide cohort study

Tsai

et al. 2019

Clinical Exper Ophthalmology

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Importance The association between visual deficits and attention disorders has been reported but remains unproven. Background The objective of this study was to evaluate the risk of attention‐deficit hyperactivity disorder (ADHD) in children with amblyopia. Design Population‐based, cohort study. Participants The dataset from the Taiwan National Health Insurance Research Database in 2000 to 2010. Methods A total of 6817 patients aged <18 years with newly diagnosed amblyopia were identified. Four age‐ and sex‐matched controls without amblyopia were included for each patient, that is, 27268 controls. Main Outcome Measures The primary outcome was the risk of ADHD. The secondary outcomes were age at ADHD onset and use of ADHD medication. Results During a mean observation period of 7.18 years, the incidence of ADHD per 1000 person‐years was 7.02 in the amblyopia group and 4.61 in the control group (P < 0.0001). The ADHD risk in the amblyopia group was 1.81 times that in the control group (hazard ratio 1.81; 95% confidence interval 1.59‐2.06). After stratification by amblyopia subtype, the greatest risk was in the deprivation type (hazard ratio 2.14; 95% confidence interval 1.56‐2.92) followed by the strabismic (hazard ratio 2.09; 95% confidence interval 1.15‐3.79) and refractive (hazard ratio 1.76; 95% confidence interval 1.54‐2.02) types. Age at ADHD onset was younger in the amblyopia group (median 8.14 vs 8.45 years; P = 0.0096). The average duration of neuropsychiatric medication use was comparable between groups (P = 0.98). Conclusions and Relevance The ADHD risk is higher in children with amblyopia.

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“…Intermittent exotropia is a condition in which one or two eyes occasionally deviate outward. It accounts for the majority of exotropia reported worldwide (Govindan et al, 2005), and affects approximately 1 in 30 preschool-aged children in China (Pan et al, 2016). During misalignment, decorrelated binocular inputs impair the normal development of binocular vision.…”

Section: Introductionmentioning

confidence: 99%

Optimal Stereoacuity Reveals More Than Critical Time in Patients With Intermittent Exotropia

Tang³

et al. 2020

Front. Neurosci.

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Synopsis: Both optimal stereoacuity and integration time to achieve that are impaired in patients with intermittent exotropia. The deterioration of stereoacuity is more revealing since it correlates well with exotropia control score.Background: Despite the periodic misalignment of two eyes, some intermittent exotropia (IXT) patients exhibit normal stereoacuity, particularly when evaluated with static tests. It is not clear if the temporal integration process of stereopsis is altered in IXT patients, thus warranting further research.Methods: IXT patients (n = 29) and age-matched normal controls (n = 36) were recruited. Static stereopsis was measured with the Titmus stereoacuity test. In computer-generated random dots tests, stereoacuity was measured with a stimuli presentation duration varying from 100 to 1,200 ms. And the relationship between stereoacuity and stimuli duration was fitted into a quadratic model. Optimal stereoacuity was achieved when fitted curve flattened and the critical integration time was the duration needed to achieve optimal stereoacuity.Results: IXT patients were not found to differ significantly from control subjects under the Titmus test, while the Random Dots stereotest showed significantly worse optimal stereoacuity and significantly longer critical integration time. Multiple regression analysis showed that age (R = −4.83; P = 0.04) had statistically significant negative correlation on the critical integration time, age (R = −6.45; P = 0.047) and exotropia control scores (R = 60.71; P = 0.007) had statistically significant effects on optimal stereoacuity. Conclusion:The temporal integration for stereopsis is impaired in IXT patients, requiring longer critical integration time to achieve elevated optimal stereoacuity.

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Epidemiology of Intermittent Exotropia in Preschool Children in China

Cited by 65 publications

References 27 publications

Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing

Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing

Incidence and risk of attention‐deficit hyperactivity disorder in children with amblyopia: A nationwide cohort study

Optimal Stereoacuity Reveals More Than Critical Time in Patients With Intermittent Exotropia

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