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"Myopia - ethnology"
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Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases
by
Hewitt, Alex W.
,
Jonas, Jost B.
,
Pasquale, Louis R.
in
631/208/205/2138
,
631/378/2583
,
692/308/2056
2018
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included
FBN1
,
ADAMTS2
and
TGFB2
which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the
LUM-DCN-KERA
gene complex involved in myopia, corneal dystrophies and cornea plana. Using index CCT-increasing variants, we find a significant inverse correlation in effect sizes between CCT and keratoconus (
r
= −0.62,
P
= 5.30 × 10
−5
) but not between CCT and primary open-angle glaucoma (
r
= −0.17,
P
= 0.2). Our findings provide evidence for shared genetic influences between CCT and keratoconus, and implicate candidate genes acting in collagen and extracellular matrix regulation.
Reduced central corneal thickness (CCT) is observed in common eye diseases as well as in rare Mendelian disorders. Here, in a cross-ancestry GWAS, the authors identify 19 novel genetic loci associated with CCT, a subset of which is involved in rare corneal or connective tissue disorders.
Journal Article
Near Work Related Parameters and Myopia in Chinese Children: the Anyang Childhood Eye Study
by
Gopinath, Bamini
,
Li, He
,
Li, Shi-Ming
in
Adolescent
,
Asian Continental Ancestry Group - statistics & numerical data
,
Care and treatment
2015
To examine the associations of near work related parameters with spherical equivalent refraction and axial length in Chinese children.
A total of 1770 grade 7 students with mean age of 12.7 years were examined with cycloplegic autorefraction and axial length. Questions were asked regarding time spent in near work and outdoors per day, and near work related parameters.
Multivariate models revealed the following associations with greater odds of myopia: continuous reading (> 45min), odds ratio [OR], 1.4; 95% confidence interval [CI], 1.1-1.8; close television viewing distance (≤ 3m), OR, 1.7; 95% CI, 1.2-2.3; head tilt when writing, OR, 1.3; 95% CI, 1.1-1.7, and desk lighting using fluorescent vs. incandescent lamp, OR, 1.5; 95% CI, 1.2-2.0. These factors, together with close reading distance and close nib-to-fingertip distance were significantly associated with greater myopia (P<0.01). Among near work activities, only reading more books for pleasure was significantly associated with greater myopia (P=0.03). Television viewing distance (≤ 3 m), fluorescent desk light, close reading distance (≤20 cm) and close nib-to-fingertip distance (≤ 2 cm) were significantly associated with longer axial length (P<0.01). Reading distance, desk light, and reading books for pleasure had significant interaction effects with parental myopia.
Continuous reading, close distances of reading, television viewing and nib-to-fingertip, head tilt when writing, reading more books for pleasure and use of fluorescent desk light were significantly associated with myopia in 12-year-old Chinese children, which indicates that visual behaviors and environments may be important factors mediating the effects of near work on myopia.
Journal Article
Prevalence and Associated Factors of Myopia in High-School Students in Beijing
2015
To evaluate prevalence and associated factors for myopia in high school students in Beijing.
Grade 10 and 11 high school students were randomly selected from nine randomly selected districts of Beijing. The students underwent non-cylcoplegic auto-refractometry and an interview.
Out of 4798 eligible students, 4677 (93.4%) students (mean age:16.9±0.7years;range:16-18 years) participated. Mean refractive error of right eyes and left eyes was -2.78±2.29 diopters and -2.59±2.50 diopters, respectively. Prevalence of myopia (defined as ≤ -1.00 diopters in the worse eye) was 80.7% (95% Confidence Interval (CI): 79.6-81.8%). Out of 3773 students with myopia, 1525 (40.4%) wore glasses daily. In multiple logistic regression analysis, a higher prevalence of myopia was associated with female sex (odds ratio (OR) = 1.31;95%CI:1.11-1.55), Han ethnicity (OR = 1.64;95%CI:1.28-2.11), attending key schools (OR = 1.48;95%CI:1.24,1.77), higher family income (OR = 1.37;95%CI:1.09-1.71), longer time spent for near work (OR = 1.43;95%CI:1.06-1.93), shorter near work distance (OR = 1.87;95%CI:1.55-2.26), lower frequency of active rest during studying (OR = 1.40;95%CI:1.16-1.70), and parental myopia (OR = 2.28;95%CI:1.80-2.87). The interaction between distance from near work and time spent for near work was statistically (P = 0.03) significant. In multiple logistic regression analysis, higher prevalence of high myopia (≤-6.0 diopters) was associated with studying in key schools (OR = 1.38;95%CI:1.05,1.81), lower frequency of active rest during studying (OR = 1.40;95%CI:1.09,1.79), and a higher number of myopic parents (OR = 2.66;95%CI:2.08,3.40).
A prevalence of about 80% for myopia and a prevalence of about 10% for high myopia in students aged 16 to 18 years and attending classes of grade 10 and 11 in a Chinese metropolitan region is another example of the high prevalence of moderate and high myopia in metropolitan areas of China. With this young myopic generation getting older, myopia as cause for visual impairment and blindness may further increase in importance. Future studies may address whether active rests during studying with looking into the distance are preventive against myopia development or progression.
Journal Article
CCDC102B confers risk of low vision and blindness in high myopia
by
Nakanishi, Hideo
,
Ohno-Matsui, Kyoko
,
Yoshikawa, Munemitsu
in
45/43
,
631/208/205/2138
,
692/308/2056
2018
The incidence of high myopia is increasing worldwide with myopic maculopathy, a complication of myopia, often progressing to blindness. Our two-stage genome-wide association study of myopic maculopathy identifies a susceptibility locus at rs11873439 in an intron of
CCDC102B
(
P
= 1.77 × 10
−12
and
P
corr
= 1.61 × 10
−10
). In contrast, this SNP is not significantly associated with myopia itself. The association between rs11873439 and myopic maculopathy is further confirmed in 2317 highly myopic patients (
P
= 2.40 × 10
−6
and
P
corr
= 1.72 × 10
−4
).
CCDC102B
is strongly expressed in the retinal pigment epithelium and choroids, where atrophic changes initially occur in myopic maculopathy. The development of myopic maculopathy thus likely exhibits a unique background apart from the development of myopia itself; elucidation of the roles of
CCDC102B
in myopic maculopathy development may thus provide insights into preventive methods for blindness in patients with high myopia.
Myopic maculopathy is a complication of myopia that often progresses to blindness. Here, in a genome-wide association study, Hosoda et al. find that rs11873439 intronic to
CCDC102B
is associated with myopic maculopathy, but not with myopia, thus representing a risk factor independent of myopia.
Journal Article
A Brillouin microscopy analysis of the crystalline lenses of Chinese adults with myopia
2024
To evaluate lenticular biomechanical and geometric parameters in Chinese adults with myopia and identify relevant factors using Brillouin microscopy (BM) and Pentacam. The biomechanical and geometric properties of the ocular lenses of Chinese adults with myopia were quantified using BM. Anterior segment images were acquired using a Pentacam. Correlated factors including age, sex, spherical equivalent (SE), intraocular pressure (IOP), axial length (AL), white-to-white ratio (WTW), central corneal thickness (CCT), anterior chamber depth (ACD), anterior chamber volume (ACV), and anterior chamber angle (ACA) were analyzed. We studied 65 eyes from 65 participants (mean age, 25.23 ± 6.12 years). Width of Top Plateau (WTP), Width of Bottom Plateau (WBP), Slope of Anterior Cortex (SAC), Slope of Posterior Cortex (SPC), and Height of Plateau (Height) metrics obtained using BM showed mean values of 2.597 ± 0.393 mm, 4.310 ± 0.535 mm, 1.344 ± 0.549 GPa/mm, –1.343 ± 0.480 GPa/mm, and 3.373 ± 0.048 GPa, respectively. No significant correlation was found between these parameters and sex, SE, IOP, CCT, ACA, or Height. Interestingly, WBP (r = 0.467,
P
< 0.001), SAC (r = 0.412,
P
= 0.001), and SPC (r = –0.280,
P
= 0.024) were significantly associated with age, and an age-related increase of WBP (slope of 35.36 ± 10.08 μm per year) was identified. Both ACD and ACV showed significant correlations with SAC (r = 0.329 and 0.380,
P
= 0.008 and 0.002, respectively), but not with SPC. BM provided a novel perspective on lenticular biomechanical and geometric properties in Chinese adults with myopia, which correlated with age, AL, WTW, ACD, and ACV.
Journal Article
A Comparison of Predicted and Achieved Postoperative Vaults in Implantable Collamer Lenses in White and Asian Eyes
2025
Purpose
To compare clinically achieved vaults with the predicted NK-formula V2 (NK-V2) and NK-formula V3 (NK-V3) vaults in a White and Asian population in patients undergoing Implantable Collamer Lens (ICL) surgery.
Methods
Data were collected retrospectively from three surgeons for all patients who had ICL surgery for myopia between September 2020 and August 2022 at Moorfields Eye Hospital. ICL sizing was performed using the optimal NK-V2 sizing formula. The postoperative vault was measured using anterior segment optical coherence tomography. Back calculation was used to evaluate predicted versus achieved vaults for the newer NK-V3 formula.
Results
A total of 136 eyes from 72 patients were eligible. Seventy-two eyes of 72 patients were included in the analysis, 50 White (69%) and 22 Asian (31%). The mean residual vault for NK-V2 was −0.08 and −0.11 (P = .76) and NK-V3 was 0.04 and 0.02 (P = .78) for White and Asian, respectively. Mean absolute errors of the White sample were 0.2 and 0.16 for NKV2 and NK-V3, respectively (P = .23). Mean absolute errors of the Asian sample were 0.31 and 0.22 for NK-V2 and NK-V3, respectively (P = .16). There was no statistical significance when comparing mean absolute errors from White and Asian samples for NK-V2 or NK-V3.
Conclusions
NK-V2 formula for ICL sizing, originally derived from an Asian population sample, appeared to perform at least as well in Whites with no adverse outcomes or safety issues. NK-V3 was superior in predicting postoperative vault compared to NK-V2 in Asian eyes and comparable for White eyes.
[J Refract Surg. 2025;41(7):e702–e708.]
Journal Article
The control effect of orthokeratology on axial length elongation in Chinese children with myopia
by
He, Xian-Gui
,
Zhu, Meng-Jun
,
Zou, Hai-Dong
in
Adolescent
,
Asian Continental Ancestry Group - ethnology
,
Axial Length, Eye - physiopathology
2014
Background
To retrospectively compare axial elongation in children with different degrees of myopia wearing spectacles and undergoing ortho-k treatment.
Methods
The medical records of 128 patients who were fitted with spectacles or orthokeratology (ortho-k) lenses in our clinic between 2008 and 2009 were reviewed. Ortho-k group comprised 65 subjects and 63 subjects wearing spectacles were included in the control group. Subjects were also divided into low-myopia, moderate-myopia and high-myopia groups, based on the basic spherical equivalent refractive error. Axial length periodically measured over 2-year of lens wear and changes in axial length were compared between treatment groups and between subgroups with different degrees of myopia.
Results
The control group exhibited more changes in axial length than the ortho-k group at both 12 months (0.39 ± 0.21 mm vs 0.16 ± 0.17 mm, p <0.001) and 24 months (0.70 ± 0.35 mm vs 0.34 ± 0.29 mm, p <0.001). Axial length elongation was estimated to be slower by about 51% in the ortho-k group. Similar results were found for the subgroups (49%, 59% and 46% reductions, respectively). In the group with low and moderate myopia, the annual increases in axial length were significantly different between the ortho-k and control groups during both the first ( Low myopia: 0.19 ± 0.17 mm vs 0.40 ± 0.18 mm, p = 0.001; Moderate myopia: 0.14 ± 0.18 mm vs 0.45 ± 0.22 mm, p <0.001) and second ( Low myopia: 0.18 ± 0.14 mm vs 0.32 ± 0.19 mm, p = 0.012; Moderate myopia: 0.18 ± 0.16 mm vs 0.34 ± 0.30 mm, p = 0.030) years. In the high myopia groups, significant differences were only found between the ortho-k and control groups during the first year (0.16 ± 0.18 mm vs 0.34 ± 0.22 mm, p = 0.004). The 2-year axial elongation was significantly associated with initial age (p <0.001) and treatment (p <0.001), but not with gender, initial refractive error, initial axial length, initial corneal curvature.
Conclusions
This 2-year study indicates that ortho-k contact lens wear is effective for reducing myopia progression in children with low, moderate and high myopia.
Journal Article
Trajectories and predictors of spherical equivalent among multiethnic school-aged children in Southwest China: a 2.5-year cohort study
2025
ObjectiveThe development of myopia is subject to individual genetic predisposition and environmental risk exposures. This study aims to investigate the trajectories and predictors of spherical equivalent (SE) among multiethnic school-aged children in Southwest China.MethodsThe school-based cohort study was conducted from October 2020 to March 2023 in Yunnan province, Southwest China. Ocular examinations and questionnaire surveys were administered at each visit. A total of 679 students with complete records from all three visits were included in the final analyses. Group-based trajectory modelling was used to identify SE trajectories. Associations between the trajectory groups and baseline predictors were assessed using multinomial logistic regression.ResultsWe identified two distinct trajectory groups of SE in grades 2–3: slow progressive (84.4% of students) and rapid progressive (15.6%). Multivariate analysis indicated that children with myopic parents and those who often stayed in the classrooms during recess were more likely to belong to the rapid progressive group. By contrast, three trajectory groups of SE were identified in grade 7: slow progressive (52.3% of students), moderate initial and rapid progressive (33%) and low initial and rapid progressive (14.7%). In multivariate models, being a girl, having myopic parents, using mobile screens for more than 0.5 hours per day and often staying in the classrooms during recess were predictors of the progressive groups. Moreover, there were no significant differences in SE trajectories between Han and ethnic groups.ConclusionThere is heterogeneity in the developmental trajectories of SE, for both primary and secondary school students. Tailored intervention strategies based on the predictors of the SE trajectories should be under special consideration.
Journal Article
Cultural roots of the myopia boom in Confucian Asia and their implications
Current evidence implicates educational pressures and reduced outdoor time as major causes of myopia. This paper examines the ongoing battle against the myopia epidemic in East Asia, including its cultural offshoots such as Singapore, where over 80% of young adults are myopic. East Asian societies share deeply rooted Confucian values that attach great importance to education and familial obligations, with heavy parental investment in education and the perception that academic excellence reflects filial piety. Coupled with a strong emphasis on standardised test results, East Asian children face intense educational pressures from a young age. Existing education-based myopia prevention strategies focus either on top-down school reforms to promote more outdoor time for students during school hours or on bottom-up awareness initiatives encouraging lifestyle changes. However, the entrenched Confucian worldview suggests that more extensive top-down reforms aimed at reducing competition in education, combined with widespread bottom-up awareness initiatives targeting the public—particularly parents, given their active involvement in children’s education outside of school—may be required to truly turn the tide on myopia.
Journal Article
MRI of posterior eye shape and its associations with myopia and ethnicity
by
Htoon, Hla Myint
,
Lim, Shin Bin
,
Cheng, Ching Yu
in
Adults
,
Aged
,
Axial Length, Eye - diagnostic imaging
2020
PurposeTo evaluate posterior eye shape variations across a wide refractive error range using brain MRI in a multiethnic cohort.MethodsAdult subjects in the multiethnic Singapore Epidemiology of Eye Disease study were included. Spherical equivalent (SE) was measured using subjective refraction, and axial length (AL) was measured using optical biometry. MRI was performed using a 3-Tesla whole body scanner with a 32-channel head coil. The radii and asphericity based on fitting of the posterior two-thirds of the eye (240°) were calculated. The refractive error status was categorised as myopic (SE<−0.5 D) or non-myopic (SE≥−0.5 D).ResultsA total of 450 adult participants (mean age 64.2±6.5 years old) were included. Less oblate asphericity was associated with more myopic SE, longer AL and with a refractive error categorisation of myopia (p<0.001 for all). Asphericity values were less oblate in myopic compared with non-myopic eyes (p<0.001). Multivariate analysis showed that Chinese subjects had less oblate eyes than Malay and Indian subjects, especially in non-myopic eyes.ConclusionsA less oblate posterior eye shape was associated with myopic eyes. Chinese eyes have less oblate shapes than Malay and Indian eyes, especially in non-myopic eyes.
Journal Article