Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking.

Strabismus is a common pediatric eye misalignment and has complex genetic and environmental causes. Previous genome-wide association studies (GWAS) encountered difficulties in identifying strabismus risk variants due to heterogeneity and small samples. We performed large meta-analyses of 11 European-ancestry GWAS (7 sources), analysing broad strabismus (20,464 cases, 954,921 controls) and subtypes (esotropia/exotropia).

Polygenic prediction of body mass index and obesity through the life course and across ancestries.

Polygenic scores (PGSs) for body mass index (BMI) may guide early prevention and targeted treatment of obesity. Using genetic data from up to 5.1 million people (4.

Polygenic Risk Prediction for Normal-Tension Glaucoma.

Purpose: Normal-tension glaucoma (NTG) is a subtype of glaucoma characterized by optic nerve damage in the setting of normal intraocular pressure. Polygenic risk scores (PRSs) have shown potential to assist with risk prediction in glaucoma, but to date no comprehensive studies have evaluated the predictive ability of PRSs for NTG.

Methods: We utilized genome-wide association study (GWAS) summary data for NTG from a European cohort to estimate the variant weights and construct PRSs.

Clinical Nomogram for Determining Expected Choroidal Thickness in Children With Myopia.

Objective: A thin choroid is a recognized risk factor for myopia-associated complications and visual impairment in later life. This study aims to develop a clinical tool to identify individuals whose choroidal thickness varies from that expected for their age, sex and refraction, and who might therefore be at higher or lower risk of future myopic complications.

Design: Post-hoc patient-level meta-analysis SUBJECTS: Participants aged 6-30 years from four clinical studies: Myopia Outcome Study of Myopia in Children (MOSAIC), Treatment Optimization of Atropine Study (TOAST), Western Australia Atropine for the Treatment of Myopia study (WAATOM), Kidskin-Young Adult Myopia Study.

Longitudinal Change in Retinal Nerve Fiber Layer Thickness and Intraocular Pressure in Young Adults.

Purpose: Age-related changes in glaucoma endophenotypes have been described thoroughly, yet, there are limited data on the normal age-related changes in young adults. This study profiles the 8-year longitudinal change in peripapillary retinal nerve fiber layer (pRNFL), intraocular pressure (IOP), and central corneal thickness (CCT) in young adults.

Methods: A community-based cohort of young adults from the Raine Study underwent eye examinations that included optical coherence tomography of the optic disc, tonometry, and pachymetry when they were 20 and 28 years old.

Evaluating Practical Approaches for Including MYOC Variants Alongside Common Variants for Genetics-Based Risk Stratification for Glaucoma.

Objective: Rare variants in the MYOC gene are associated with glaucoma risk, with p.Gln368Ter the most common pathogenic variant in Europeans. Genetics-based risk stratification may aid with early diagnosis for glaucoma but it is unclear how best to combine the p.

A Multitrait Open-Angle Glaucoma Polygenic Risk Score Stratifies Risk of Glaucoma Diagnosis and Severity in Eyes with Pseudoexfoliation.

Purpose: Pseudoexfoliation syndrome (PEX) is a known risk factor for glaucoma, but its individual clinical course ranges from no glaucoma to total blindness. This study investigated whether polygenic risk scores (PRSs) built from variants collectively associated with open-angle glaucoma, intraocular pressure (IOP), and vertical cup-to-disc ratio (VCDR) can stratify individuals with pseudoexfoliation for the risk of glaucoma development.

Design: Retrospective multicohort study of 2 glaucoma registries and 1 population-based cohort.

Leber Hereditary Optic Neuropathy: Support, Genetic Prediction and Accurate Genetic Counselling Enhance Family Planning Choices.

With the increased availability of genetic testing and the addition of mitochondrial genetic variants on disease panels, accurate genetic counselling for individuals and families affected by, or at risk of, Leber hereditary optic neuropathy (LHON) is becoming increasingly relevant. Challenges in providing genetic counselling for LHON include its mitochondrial inheritance pattern, different haplogroups, incomplete penetrance and that it predominantly affects males. Accurate genetic counselling aims to avoid incorrect disease-risk assessment and delays in either diagnosis or implementation of psychosocial support.

Family and genetic counseling in Leber hereditary optic neuropathy.

Aim: Leber hereditary optic neuropathy (LHON) predominantly manifests during adolescence or young adulthood, resulting in sudden and profound vision loss in individuals who previously had normal vision. This abrupt change significantly impacts daily life, necessitating emotional support, counseling and low-vision rehabilitative services to help affected individuals cope with the shock and adapt to their residual vision. The psychosocial burden of dealing with vision loss extends beyond the individuals directly affected by LHON, affecting matrilineal relatives who face the dual challenges of grieving for their loved one's vision loss and managing their own uncertainty about potential vision loss and its familial implications.

Predictive Power of Polygenic Risk Scores for Intraocular Pressure or Vertical Cup-Disc Ratio.

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.

Uncovering genetic loci and biological pathways associated with age-related cataracts through GWAS meta-analysis.

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.

Tracing ocular biometry and their heritability in twins in a hospital-based cohort in South India.

Purpose: Twin studies, in the background of lack of twin registry in India, are a challenge. We report the response rates in tracing a hospital birth register-based cohort of twins using mail and door to door survey, ocular parameters influencing refractive errors, and their heritability.

Methods: Twins born from 1991 to 1995 in a tertiary hospital in the Vellore District of South India from a database were traced by mail and home survey from March 2011 to September 2013.

Integrating Genetics in Glaucoma Screening.

Prcis: As additional glaucoma genes are identified and classified, polygenic risk scores will be refined, facilitating early diagnosis and treatment. Ensuring genetic research is equitable to prevent glaucoma blindness worldwide is crucial.

Purpose: To review the progress in glaucoma genetics over the past 25 years, including the identification of genes with varying contributions to the disease and the development of polygenic risk scores.

Choroidal Changes During and After Discontinuing Long-Term 0.01% Atropine Treatment for Myopia Control.

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.

Impact of coronavirus disease 2019 restrictions on the efficacy of atropine 0.01% eyedrops for myopia control - Findings from the Western Australia Atropine for the Treatment of Myopia study.

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.