Publications by authors named "Samantha Szeyee Lee"

Article Synopsis
  • Genetic information is becoming more integrated into eye care, especially for conditions like retinoblastoma that stem from single gene mutations, while most eye diseases involve multiple genetic variants and environmental influences.
  • The article introduces three genetic epidemiology methods for studying complex eye diseases: genome-wide association studies (GWAS), Polygenic Risk Scores (PRS), and Mendelian randomisation (MR).
  • GWAS identifies associations between traits and numerous genetic variants, PRS quantifies an individual's genetic risk based on GWAS findings, and MR examines potential causal relationships between traits using genetic variants as proxies.
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Importance: Early detection of glaucoma is essential to timely monitoring and treatment, and primary open-angle glaucoma risk can be assessed by measuring intraocular pressure (IOP) or optic nerve head vertical cup-disc ratio (VCDR). Polygenic risk scores (PRSs) could provide a link between genetic effects estimated from genome-wide association studies (GWASs) and clinical applications to provide estimates of an individual's genetic risk by combining many identified variants into a score.

Objective: To construct IOP and VCDR PRSs with clinically relevant predictive power.

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Age-related cataracts is a highly prevalent eye disorder that results in the clouding of the crystalline lens and is one of the leading causes of visual impairment and blindness. The disease is influenced by multiple factors including genetics, prolonged exposure to ultraviolet radiation, and a history of diabetes. However, the extent to which each of these factors contributes to the development of cataracts remains unclear.

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Purpose: Associations between age at menarche and myopia have been observed in studies that included older women. Furthermore, pregnancy-related hormone surges in young women are associated with short-term changes in refractive error, although the long-term effects are less known. This study explored associations of age at menarche and parity with refractive error and ocular biometry in young women, and the relationship between age at menarche and refractive error in middle-aged adults for comparison.

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Purpose: Few studies have explored choroidal changes after cessation of myopia control. This study evaluated the choroidal thickness (ChT) and choroidal vascularity index (CVI) during and after discontinuing long-term low-concentration atropine eye drops use for myopia control.

Methods: Children with progressive myopia (6-16 years; n = 153) were randomized to receive 0.

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Article Synopsis
  • Optical coherence tomography (OCT) is used to analyze retinal layer thickness and has revealed decreased retinal nerve fiber layer and ganglion cell integrity in Parkinson's disease (PD) patients.
  • The study involved young adults undergoing OCT imaging, with genetic risk factors for PD assessed through polygenic risk scores and evaluations of changes in retinal thickness.
  • Results indicated a significant link between PD risk scores and macular retinal thickness changes, identifying 27 genes associated with both PD and retinal integrity, suggesting potential causal relationships.
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This study explored the impact of short-term coronavirus disease 2019 (COVID-19) restrictions on the efficacy of atropine 0.01% eyedrops on myopia control in a multiethnic cohort of Australian children. In the Western Australia Atropine for the Treatment of Myopia study, 104 and 49 children were randomized to receive atropine 0.

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Purpose: This study evaluates the performance of a multitrait polygenic risk score (PRS) in an independent cohort to predict incident or progression of keratoconus.

Design: Prospective cross-sectional and cohort study METHODS: Setting: Single-center; Study population: 1478 community-based young adults (18-30 years; 51% female), including 609 (52% female) who returned for an 8-year follow-up; Observation procedures: Scheimpflug imaging (Pentacam, Oculus), genotyping and development of a multitrait PRS previously validated to predict keratoconus in older adults.; Main outcome measure: Belin/Ambrόsio enhanced ectasia display (BAD-D) score and keratoconus, defined as BAD-D ≥2.

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Background: A rebound in myopia progression following cessation of atropine eyedrops has been reported, yet there is limited data on the effects of stopping 0.01% atropine compared to placebo control. This study tested the hypothesis that there is minimal rebound myopia progression after cessation of 0.

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Purpose: Changes in refractive error during young adulthood is common yet risk factors at this age are largely unexplored. This study explored risk factors for these changes, including gene-environmental interactions.

Methods: Spherical equivalent refraction (SER) and axial length (AL) for 624 community-based adults were measured at 20 (baseline) and 28 years old.

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Article Synopsis
  • - This study investigates the distribution of axial length (AL) among different age groups in Australia, highlighting its significance in choosing treatments for myopia, a condition characterized by elongated eyes.
  • - Researchers analyzed data from 5,938 Australians, finding that myopic individuals experience a more pronounced increase in AL during childhood and early adulthood compared to those without myopia.
  • - The findings suggest that early intervention is crucial, as myopia leads to greater changes in eye length during youth, and further research is needed to develop effective myopia management strategies.
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Article Synopsis
  • * Adult-onset myopia is prevalent in western populations, with over a third of cases originating in adulthood, while rates are lower in East Asia due to earlier onset.
  • * Ongoing myopia management is necessary for young adults, as significant progression can occur, averaging about 1.00 diopters during the ages of 20 to 30, and established treatments for children may not be as effective for adults.
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Background: High myopia (HM), defined as a spherical equivalent refractive error (SER) ≤ -6.00 diopters (D), is a leading cause of sight impairment, through myopic macular degeneration (MMD). We aimed to derive an improved polygenic score (PGS) for predicting children at risk of HM and to test if a PGS is predictive of MMD after accounting for SER.

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Background: To test the hypothesis that 0.01% atropine eyedrops are a safe and effective myopia-control approach in Australian children.

Methods: Children (6-16 years; 49% Europeans, 18% East Asian, 22% South Asian, and 12% other/mixed ancestry) with documented myopia progression were enrolled into this single-centre randomised, parallel, double-masked, placebo-controlled trial and randomised to receive 0.

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Purpose: The purpose of this study was to explore the age-related change in choroidal thickness (ChT) and test the hypothesis that baseline ChT is predictive of refractive error change in healthy young adults.

Methods: Participants underwent spectral-domain optical coherence tomography (SD-OCT) imaging and autorefraction at 20 (baseline) and 28 years old. The enhanced depth imaging mode on the SD-OCT was used to obtain images of the choroid.

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Worldwide, glaucoma affects about 3% of the population over the age of 50 years and is a leading cause of irreversible visual impairment among older people. Because glaucoma is asymptomatic in its early stages and can be challenging to diagnose clinically, it often remains undiagnosed until substantial vision loss has occurred. Efficient methods of glaucoma screening are therefore warranted for early detection of disease.

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Myopia tends to develop and progress fastest during childhood, and the age of stabilization has been reported to be 15-16 years old. Thus, most studies on myopia have centered on children. Data on the refractive error profile in young adulthood - a time in life when myopia is thought to have stabilized and refractive error is unaffected by age-related pathology such as cataract - are limited.

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Purpose: Changes in retinal thickness are common in various ocular diseases. Transverse magnification due to differing ocular biometrics, in particular axial length, affects measurement of retinal thickness in different regions. This study evaluated the effect of axial length and refractive error on measured macular thickness in two community-based cohorts of healthy young adults.

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Importance: Myopia incidence and progression has been described extensively in children. However, few data exist regarding myopia incidence and progression in early adulthood.

Objective: To describe the 8-year incidence of myopia and change in ocular biometry in young adults and their association with the known risk factors for childhood myopia.

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Purpose: Cross-sectional studies have variably reported that poor sleep quality may be associated with myopia in children. Longitudinal data, collected over the ages when myopia develops and progresses, could provide new insights into the sleep-myopia paradigm. This study tested the hypothesis that 12-year trajectories of sleep behaviour from childhood to adolescence is associated with myopia during young adulthood.

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Purpose: exposure to cigarette smoke has been suggested to result in thinner retinal nerve fibre layer (RNFL). However, the potential cofounding effects of alcohol exposure and passive smoking during childhood had not been considered. We explored RNFL thickness in young adults in relation to these early life factors.

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Background: The prevalence of myopia is increasing globally including in Europe and parts of Asia but Australian data are lacking. This study aim described the change in myopia prevalence in middle-aged Australian adults over approximately a 20-year period.

Methods: Two contemporary Western Australian studies (conducted in mid-late 2010s): the coastal-regional Busselton Healthy Ageing Study (BHAS) and the urban Gen1 of the Raine Study (G1RS) were compared to two earlier studies (early-mid 1990s) in Australia: the urban Blue Mountains Eye Study (BMES) and urban/regional Melbourne Visual Impairment Project (MVIP).

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Purpose: To report the distribution of peripapillary retinal nerve fiber layer (RNFL) thickness in healthy young adults, investigate factors associated with RNFL thickness, and report the percentage of outside normal limits (ONL) and borderline (BL) RNFL thickness classifications based on the optical coherence tomography (OCT) manufacturer reference database.

Methods: Participants of the Raine Study Generation 2 cohort (aged 18-22 years) underwent spectral domain OCT imaging with an RNFL circle scan. Eyes with inadequate scans or optic nerve pathology were excluded.

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