Myopia is predominantly genetic or predominantly environmental?

Ophthalmic and Physiological Optics, Journal Year: 2025, Volume and Issue: unknown

Published: March 3, 2025

Jeremy A. Guggenheim High-prevalence diseases are generally attributed to a combination of genetic susceptibility and exposure lifestyle-related risk factors. In the case myopia, at each end this multifactorial aetiology spectrum examples with purely or environmental origin. Pedigrees carrying rare, highly penetrant disease-causing mutations can cause myopia irrespective lifestyle factor exposure, while deprivation form vision in early life leads across wide range backgrounds. The focus Point-Counterpoint article children whose refractive error is not caused by these extremes: Is their predominantly environmental? This question really matters. Public health efforts need address root if they reverse current epidemic. Should interventions be targeted children—for example, drugs optical devices personalised individual child? Or should environment all altering education systems restricting use smartphones? Here, Ian Morgan Virginie Verhoeven present evidence that genetic. J. M. Whether driven factors David versus Goliath discussion many ways, contrasting viewpoints competing explain complex condition. I will outline key supporting basis disclosing my background genetics, which may have shaped perspective. journey begins genetics—we carry 'backpack' genes inherited from our parents, determining While factors, such as near work reduced outdoor activity, shape progression do so largely context an existing predisposition. Without right background, there no foundation for develop. First all, it family tree gives us clearest glimpse into likelihood development. Heritability statistical measure estimates proportion variation trait within population differences, rather than striking, ranging 60% 90%, indicating account majority variation, only 10% 20% attributable influences.1, 2 Family studies provide robust evidence. It well-established one both parents myopic, then child developing increases significantly.3-6 Twin compelling additional evidence: Identical twins, who share 100% genes, show significantly higher concordance rates compared fraternal 50% genes.7-9 As twins inherently grow up similar environments, findings suggest outweigh shared influences. We distinguish between common results Mendelian (or syndromic) unequivocally single mutation. cases retinal dystrophies connective tissue disorders, play little role.10, 11 These means rare exceptions black swans; recent research indicates forms occur far more frequently previously thought, underscoring significant contribution overall burden myopia.10, But also predisposition remains determinant, modulating expression risk. Genome-wide association (GWAS) population-based cohorts demonstrated everyone carries certain level quantified polygenic scores.12 scores represent accumulation protective multiple contributing small amount myopia. For most individuals, influence but underlying protection fundamentally rooted genes. instance, high likely develop even environments near-work activity increased time.13 Conversely, Prof I, despite being educated engaging throughout careers, developed Based on arguments, might expect otherwise, makeup has protected us. underscores critical role genetics epidemic observed East Asia provides study. Although prevalence rapidly increasing Asian countries, individuals myopia.14 argued rapid rise cannot gene pools remain stable over short periods.15 argument valid, increase well reflect amplification response changing pressures, dismissal contributions. so-called 'missing heritability' problem refers gap heritability twin explained identified variants. unique challenge traits.16 reflects limitations methodologies, inability capture variants, gene–gene gene–environment interactions epigenetic modifications. Advances whole-genome sequencing expected gaps, uncovering contributors brings me future how manage Genetics hold effective therapies. inform approaches its prevention treatment. Medical professionals consider history rigorously offer testing considered appropriate, particularly error, positive history, poor therapy, presence ocular systemic features10, 11. Naturally, applies when available accessible. Otherwise, simply asking quickly drawing could serve valuable first step predicting managing children. believe incredibly important, reasons, doubt generations spend time outdoors. With intensifying heat growing addiction screens social media platforms, seems increasingly unrealistic. However, identifying risk, we take measures, limiting screen time, control, slow progression.10 To conclude, overwhelmingly supports primary driver. rising interaction triggers, understanding myopia's continues grow, offers roadmap treatment strategies. shapes world, truly vision. G. debate about causes status given population, time. At extreme, hypothesis variations written genome. other exposures. My task put hypothesis. important clear what is. Some argue because living organisms made cells contain controlled operation, absurd obviously depends both. irrelevant required life. variation. specific context—the emerged past 60–70 years parts Singapore Southeast Asia.15, 17 region, defining very practical question. Over years, risen around 20%–30% young adults 80%, parallel, 10%–30% become putting them subsequent uncorrectable visual impairment blindness.18 been disproportionately relative myopia,19, 20 control priority. Identifying people genome, hard prevent, although prove useful prevention.21, 22 contrast, due causal exposures, attempt modify remove those exposures without invasive interventions. 20–30 major change Only ago, was widely believed humans strongly genetically determined had, most, limited none all.23 Sorsby it, 'there cumulative, direct incontrovertible determined'. co-existed large body experimental experiences affect development animals,24, 25 logically did require abandoning dominant human myopia—it meant effects were possible. took greater significance once invalidated. completely inconsistent emergence myopia.26, 27 Gene fast, almost certainly environmental. rapid, induced mass systems. itself rendered unviable, understand led dominance conclusive thought. influential favour determination came several studies.7-9 logic simple apparently powerful—monozygotic (MZ) identical genetically, dizygotic (DZ) share, average, half So, MZ concordant DZ trait, ideally twice concordant, would trait. Myopia seemed textbook 70%–90% roughly 30%–45%. totally equal assumption; members pairs trait-relevant pairs.28 If contribute difference concordance, falls over. Consequently, sometimes point contribution, limit, mean absolutely nothing. Moreover, relation known educational outcomes twins,29 violates assumption now myopia.30-32 All does imply contribution. Ultimately, validation come associated molecular germline explains heritability. fact, extensive analysis failed find anything like sufficient accounting for, best, 20%,1, 12 theoretical upper limit 35%.33 mismatch fact traits—so much general term coined.16 A few geneticists continue improved techniques larger sample sizes missing heritability, but, documentation hope doomed disappointed. Two arguments used support myopic myopic34 genetic, parental effect could, least principle, creating myopiagenic environments. Recent suggests involves factors.35 worth noting during had parents. Arguments based therefore fail. predisposition, why myopic? pass children, must making difference. second racial/ethnic differences differences. wrong principle since small, racial ethnic differences.36 marked, environment, addition modern practice single-nucleotide polymorphisms (SNPs) groups.1, Thus, three main pillars belief stand rigorous scrutiny. contrast failure explanations, massive observational epidemiological identified.37 One schooling. after Second World War began introduced systematically less still progress. competitive Tigers (Singapore, Hong Kong, Taiwan South Korea) later exceptionally Cultural Revolution China closely paralleled epidemics myopia.17 Specific features intensive age, heavy homework loads participation tutorial classes out school hours, identified.38 impact observations research—that through levels observation—that often assumed shifts refraction naturally get older. close examination assumption. general, go rarely myopic; receive associates duration myopia; link reviewed detail elsewhere.17 Chinese links myopia.31, 39-43 strict enrolment rules apply grade, differing months age. oldest grade days younger youngest different status. Similarly, older next lower child's correlates number school, shift occurs age attend grade-specific itself. Another finding epidemiology affects boys girls, girls boys. Orthodox Ultra-Orthodox Jewish families Israel, sexes Asia, sisters.44, 45 unexpected observation readily whereas religious intense. explanation excluded, sex-linked known,46 consistent data. interesting note detailed data Netherlands males tended boys,47 arguably restrictions markedly decreased 50 years. ability diverse strengthens credibility. More causality requires randomisation impacts discussed above comes studies, where occur. education, amounts clearly unethical, dependent natural experiments. nature associations assessed cases. Using randomisation,31 shown having SNPs schooling lead establishes Causality annual using regression discontinuity analysis, results.30, 32, 39-42 conclusion involve solidly comprehensive pattern aspects attendance engagement activities. Where tests possible, supported existence outdoors.4, 48, 49 case, intervention trials ethically approved, outdoors trials.50-52 Furthermore, successfully implemented practice.53-55 Having plausible mechanism underpin strong hypothesis.56 established, decades speculation research, demands reading writing commonly invoked. performing clear. outdoors, light intensities daylight hours,48, 57 result release dopamine inhibition axial elongation, received animal experimentation.58, 59 suggested spatial frequency components scenes indoors role,60 preliminary reports successful trial performed (Weizhong Lan, personal communication). summary, severity seen Singapore. changes rest world limited, appears any formal this, too, unlikely change. Genetic localisation effect. alternative hypothesis, specifically, data, explaining Therefore, hypotheses currently best framework predominant today, namely, develops schooling, unless solid contradictory funded UK Research Innovation (UKRI) under Government's Horizon Europe funding guarantee (grant EP/Y032292/1). Funded European Union (Project 101119501—MyoTreat—HORIZON-MSCA-2022-DN-01). Views opinions expressed author necessarily UKRI. Neither nor granting authority held responsible them. No financial conflicts interest declare. generated part

Language: Английский

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Quarter of a century of contact lens prescribing trends in Australia (2000–2024)

Clinical and Experimental Optometry, Journal Year: 2025, Volume and Issue: unknown, P. 1 - 12

Published: Jan. 12, 2025

Clinical relevance Knowledge of contact lens prescribing trends can (a) assist practitioners to benchmark their own habits, (b) help the industry understand preferred products, and (c) support academics in scholarly writings.

Language: Английский

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Impact of repeated low-level red-light therapy on axial length, refraction, and macular retinal blood flow density in adolescents with mild to moderate myopia

Photodiagnosis and Photodynamic Therapy, Journal Year: 2025, Volume and Issue: unknown, P. 104499 - 104499

Published: Jan. 1, 2025

Language: Английский

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Does 0.01% atropine have a place as a myopia control therapy?

Ophthalmic and Physiological Optics, Journal Year: 2025, Volume and Issue: unknown

Published: April 7, 2025

Language: Английский

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Assessment of retinochoroidal microvasculature in young Chinese Han and Uyghur adults with mild-moderate myopia: An OCTA study

Research Square (Research Square), Journal Year: 2025, Volume and Issue: unknown

Published: April 8, 2025

Objective To compare the differences in retinochoroidal microvasculature between Han and Uyghur population with mild-moderate myopia using optical coherence tomography angiography (OCTA) . Method This prospective cross-sectional study included 60 young Chinese subjects.They are divided into two groups according to their ethnics (Han group group). All subjects underwent ophthalmic screening examinations. Retinal choroidal parameters were evaluated swept-source OCTA (SS-OCTA), including retinal thickness, vessel flow density (VFD), foveal avascular zone (FAZ) area, vascularity volume index (CVV CVI) vascular length (VLD). Results had mean ages of 24.93 ± 1.70 25.57 1.36, respectively (p = 0.116). No significant found parameters, VFD FAZ area groups. Compared population, Uyghurs have thicker thickness (P = 0.004), higher CVV 0.002) CVI 0.003). Axial (AL) was negatively associated VFD-SCP, VFD-DCP, VFD-whole retina VFD-choriocapillaris layer based on univariate linear regression analysis. However, only AL after correction for age gender multifactor For subjects, no be age, both Conclusion Young significantly compared matched which may partially elucidate etiological mechanisms underlying reduced prevalence observed within cohort.

Language: Английский

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Clinical evaluation of MyoCare in Europe (CEME) for myopia management: One‐year results

Ophthalmic and Physiological Optics, Journal Year: 2025, Volume and Issue: unknown

Published: April 29, 2025

Abstract Aims To evaluate the efficacy of CARE spectacle lenses in slowing myopia progression among European children. Methods In a 2‐year randomised, parallel‐group, double‐masked, multicentre clinical trial, 234 children aged 6–13 years were enrolled. All participants myopic, with cycloplegic spherical equivalent refractive error (SE) between −0.75 D and −5.00 D, astigmatism ≤1.50 anisometropia ≤1.00 at least 0.50 previous year. The treatment group received MyoCare cylinder annular elements (CARE), control single‐vision (SVL). Axial length (AL) SE measured baseline, 6 12 months. Wearability questionnaires administered 1 week 3 Central peripheral visual acuity (VA) was recorded dispensing after Generalised linear models estimated changes AL, adjusting for lens type, age baseline measurements. Results After months, wearing showed less progression, difference AL (compared to SVL) −0.21 (CI: 0.10 0.32 D) 0.14 mm −0.17 −0.10 mm), respectively. VA did not decrease lenses. Peripheral decreased by 0.09 logMAR nasal temporal zones, Analysis fast progressors indicated that 39.7% SVL eyes progressed ≤−0.50 D/year compared 21.1% ( p < 0.01). For 56.0% had an elongation ≥0.20 21.3% Conclusions children, significantly slower year wear. Further monitoring will provide comprehensive evaluation long‐term efficacy.

Language: Английский

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Myopia control strategies: A systematic review and meta‐meta‐analysis

Ophthalmic and Physiological Optics, Journal Year: 2024, Volume and Issue: 45(1), P. 160 - 176

Published: Nov. 12, 2024

Abstract Purpose To summarise pooled estimates of the efficacies various myopia control interventions, as drawn from published meta‐analyses. Method PubMed, SCOPUS and Web Science were searched inception to February 2024 for systematic reviews meta‐analyses reporting treatment effects strategies. The qualities included assessed using 16‐item A MeaSurement Tool Assess Reviews ( AMSTAR ) 2. An intervention was defined having a clinically significant effect if it resulted in change spherical equivalent refraction (SER) ≥0.50 D/year or axial length (AL) ≤−0.18 mm/year. Results total 38 studies identified. overall respective changes SER AL, mean difference (95% CI) high‐concentration (≥0.5%) atropine 0.67 D (0.58–0.77) −0.24 mm (−0.36 −0.11); moderate‐concentration (>0.05% <0.5%) 0.48 (0.34–0.62) −0.23 (−0.27 −0.19); low‐concentration (0.01%, 0.025%, 0.05%) 0.33 (0.23–0.43) −0.14 (−0.19 −0.09); orthokeratology −0.47 (−0.66 −0.28); peripheral plus soft contact lenses 0.30 (0.18–0.42) −0.35 (−0.62 −0.08); spectacles 0.77 (0.40–1.14) −0.43 (−0.78 multifocal 0.21 (0.11–0.31); repeated low‐level red light therapy 0.55 (0.46–0.65) −0.25 (−0.29 −0.20); outdoor time 0.17 (0.16–0.18) −0.04 (−0.06 −0.01). Conclusion High moderate concentrations atropine, orthokeratology, demonstrated on slowing AL elongation, while high progression.

Language: Английский

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Effectiveness of Defocus Incorporated Multiple Segments in Slowing Myopia Progression in Pediatric Patients as a Function of the Age. Three Years Follow Up

Published: Aug. 13, 2024

Background: To evaluate the effectiveness of Defocus Incorporated Multiple Segments (DIMS) in slowing myopia progression pediatric patients as a function age. Methods: This was non-randomized experimenter-masked retrospective controlled observational study European individuals aged 6 -16 years with progressive but no ocular pathology. We retrospectively reviewed charts participants allocated to receive DIMS spectacles (Hoya&reg; MiyoSmart&reg;) or single vision spectacle lenses (control group). Cycloplegic spherical equivalent (SE) and axial length (AL), were measured at baseline 36 month follow up. The results stratified by age into four groups: that wore oldest youngest than 10 (respectively, group A, 20 mean 13.6&plusmn;2.2 C, 9.0&plusmn;1.2) age-matched control groups (group B, 18 13.2&plusmn;2.5 D, 22 8.5&plusmn;0.9). Results: At months, SE AL increase resulted significantly reduced A respectively compared B D (p&lt;0.05). Linear regression analysis showed significant correlation (P&lt;0.05) between patient for only also AL. Groups did not show any (P&gt;0.05). Conclusion: seem slow patients, however their greatest children Morover our findings suggest may be more reliable parameter evaluating progression.

Language: Английский

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Subjective impressions with myopia control contact lenses versus single vision lenses: A systematic review and meta-analysis

Contact Lens and Anterior Eye, Journal Year: 2024, Volume and Issue: unknown, P. 102303 - 102303

Published: Sept. 1, 2024

Language: Английский

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Effectiveness of Defocus Incorporated Multiple Segments in Slowing Myopia Progression in Pediatric Patients as a Function of Age: Three-Year Follow-Up

Diseases, Journal Year: 2024, Volume and Issue: 12(9), P. 222 - 222

Published: Sept. 18, 2024

Background: The purpose of this study is to evaluate the effectiveness Defocus Incorporated Multiple Segments (DIMSs) in slowing myopia progression pediatric patients as a function age. Methods: This was non-randomized experimenter-masked retrospective controlled observational European individuals aged 6–16 years with progressive but no ocular pathology. We retrospectively reviewed charts participants allocated receive DIMS spectacles (Hoya® MiyoSmart®) or single-vision spectacle lenses (control group). Cycloplegic spherical equivalent (SE) and axial length (AL) were measured at baseline 12-, 24-, 36-month follow-ups. results stratified by age into four groups: wearing older younger than 10 (group A, 20 mean 13.6 ± 2.2, group C, 9.0 1.2) age-matched control groups B, 18 13.2 2.5, D, 22 8.5 0.9). Results: At 36 months, SE AL increase significantly reduced A respectively, compared B D (p < 0.05). Linear regression analysis showed significant correlation 0.05) between patient for only AL. Groups did not show any > Conclusions: seem slow patients; however, their shows greatest children Moreover, our findings suggest that may be more reliable parameter evaluating progression.

Language: Английский

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