Craig Jamie E

Corneal Stiffness Parameters Are Predictive of Structural and Functional Progression in Glaucoma Suspect Eyes.

Glaucoma suspect eyes with higher corneal SPs and lower CCT, suggestive of thin and stiff corneas, are at greater risk of progression.

An Intraocular Pressure Polygenic Risk Score Stratifies Multiple Primary Open-Angle Glaucoma Parameters Including Treatment Intensity.

The IOP PRS was correlated positively with maximum IOP, disease severity, need for surgery, and number of affected family members.

Cardiovascular Disease Predicts Structural and Functional Progression in Early Glaucoma.

Cardiovascular disease is an important risk factor for glaucoma progression.

Association of Genetic Variation With Keratoconus.

In this relatively large keratoconus genome-wide association study, we identified a genome-wide significant locus for keratoconus in the region of PNPLA2 on chromosome 11.

SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma.

We provide further evidence for PCG caused by TEK haploinsufficiency, affirm autosomal dominant inheritance in two pedigrees, and propose SVEP1 as a modifier of TEK expression during SC development, affecting disease penetrance and severity.

Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.

These data highlight the genetic and phenotypic heterogeneity of childhood glaucoma and support the use of gene panels incorporating FOXC1 as a diagnostic aid, especially because clinical features of Axenfeld-Rieger syndrome can be subtle.

Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma.

Biallelic CPAMD8 variation was associated with a highly heterogeneous phenotype and in our cohorts was the second most common inherited cause of childhood glaucoma after CYP1B1 and juvenile open-angle glaucoma after MYOC.

Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies.

The MYOC p.Gln368Ter variant confers a very high-risk effect size for advanced glaucoma; the risk is lower in nonadvanced glaucoma and OHT.

Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry.

We report on the largest cohort of individuals with childhood and early onset glaucoma from Australasia using the CGRN classification.

Association Between Body Mass Index and Primary Open Angle Glaucoma in Three Cohorts.

Body mass index correlated with longitudinal and cross-sectional glaucomatous outcomes. This supports previous work illustrating a correlation between BMI and glaucoma.

Association of High Polygenic Risk With Visual Field Worsening Despite Treatment in Early Primary Open-Angle Glaucoma.

In this study, high polygenic risk was associated with more rapid structural and functional progression in early POAG, despite more intensive treatment.

Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals.

Our findings demonstrated that MYOC cascade genetic testing for POAG allows identification of at-risk individuals at an early stage or even before signs of glaucoma are present.

Macular Ganglion Cell-Inner Plexiform Layer Loss Precedes Peripapillary Retinal Nerve Fiber Layer Loss in Glaucoma with Lower Intraocular Pressure.

Clinical features, particularly pretreatment IOP, influence whether structural glaucoma progression is detected earlier with mGCIPL or pRNFL imaging.

Association of Monogenic and Polygenic Risk With the Prevalence of Open-Angle Glaucoma.

Monogenic and high polygenic risk were each associated with a more than 2.5-fold increased odds of developing glaucoma and an equivalent mean age at glaucoma diagnosis, with high polygenic risk more than 15 times more…

Using Icare HOME tonometry for follow-up of patients with open-angle glaucoma before and after selective laser trabeculoplasty.

This methodology could be highly useful for facilitating safe follow-up of patients residing in remote and rural areas, thus reducing healthcare cost with better information on IOP.

Attitudes Towards Polygenic Risk Testing in Individuals with Glaucoma.

These findings will help to facilitate the clinical implementation of PRS testing for glaucoma to reduce irreversible vision loss.

High Polygenic Risk Is Associated with Earlier Initiation and Escalation of Treatment in Early Primary Open-Angle Glaucoma.

This study demonstrated novel associations between glaucoma polygenic risk and risk of commencement or escalation of IOP-lowering therapy, building on previous work highlighting the potential clinical usefulness of genetic risk stratification in glaucoma.

Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets.

Collectively, testosterone metabolism pathway SNPs were consistently associated with the high-tension subtype of POAG in two datasets.

Determining Possible Shared Genetic Architecture Between Myopia and Primary Open-Angle Glaucoma.

Using two complementary approaches we found no evidence to support a genetic overlap between myopia and POAG; our results suggest that the comorbidity of these diseases is not influenced by common variants.

Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma.

Rare, potentially disease-causing variants in Mendelian POAG genes that showed enrichment in our dataset were found in 22.9% of advanced early-onset POAG cases.

Quality of Life in Adults with Childhood Glaucoma: An Interview Study.

Childhood glaucoma poses a substantial impact to the emotional well-being of adults with the condition, which is mediated by the use of coping strategies.

A Polygenic Risk Score Predicts Intraocular Pressure Readings Outside Office Hours and Early Morning Spikes as Measured by Home Tonometry.

A validated IOP PRS was associated with higher early morning IOP and mean IOP outside office hours.

Secondary stenting of glaucoma drainage implant: a novel technique for treatment of late hypotony.

Assessing the Efficacy of Synthetic Optic Disc Images for Detecting Glaucomatous Optic Neuropathy Using Deep Learning.

Although our model performed well on synthetic data, training on a mixed data set demonstrated better performance and generalization.

Comparison of Anterior Segment Abnormalities in Individuals With FOXC1 and PITX2 Variants.

Corneal abnormalities were more common in individuals with FOXC1 than in those with PITX2 variants and were often associated with early onset glaucoma.

Effect of phacoemulsification cataract surgery on intraocular pressure in early glaucoma: A prospective multi-site study.

Cataract surgery has a confirmed effect in reducing IOP in a "real world" setting of early glaucoma patients.

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

The PRSs for open-angle glaucoma, IOP, and VCDR stratify risk of glaucoma development and disease severity among individuals with PEX.

Mitochondrial TXNRD2 and ME3 Genetic Risk Scores Are Associated with Specific Primary Open-Angle Glaucoma Phenotypes.

Patients with POAG with higher TXNRD2 and ME3 GRSs showed higher treated IOP and a greater prevalence of paracentral field loss.

Attitudes Toward Glaucoma Genetic Risk Assessment in Unaffected Individuals.

Our results show strong interest in genetic risk assessment for glaucoma among unaffected individuals in Australia.

Progress in Translating Glaucoma Genetics Into the Clinic: A Review.

Here, we review the evidence base for genetic variants strongly associated with glaucoma and outline a vision for translating these learnings into the clinic.

Physical Activity Is Associated With Macular Thickness: A Multi-Cohort Observational Study.

These results highlight the potential neuroprotective benefits of exercise on the human retina.

A generalised computer vision model for improved glaucoma screening using fundus images.

This study demonstrated the high efficacy of our classification model in distinguishing between glaucomatous and healthy discs.

Glaucoma Drainage Device Technique in a Cohort of Experienced Glaucoma Surgeons in Australia and New Zealand.

Although a wide range of practice patterns for GDD implantation exists among Australia and New Zealand Glaucoma Society surgeons, there are consistent techniques currently in use to optimize patient outcomes.

The Caregiver Experience in Childhood Glaucoma: An Interview Study.

Childhood glaucoma poses a substantial threat to a caregiver's psychosocial well-being.

High Polygenic Risk Is Associated with Earlier Trabeculectomy in Patients with Primary Open-Angle Glaucoma.

This report identified clinically relevant correlations between glaucoma PRS and the need for surgical intervention in patients with glaucoma.

Audible clicking on blinking: an adverse effect of topical prostaglandin analogue medication.

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

VCDR and IOP PRSs derived using a large recently published multitrait GWAS exhibited validity across independent cohorts.

Comparative Study of Early Safety and Effectiveness Outcomes of the PreserFlo MicroShunt with and without an Intraluminal Suture Stent.

The use of an intraluminal suture stent in PreserFlo MicroShunt surgery reduces the incidence of early hypotony without compromising surgical success.

Seeing the impact of the Glaucoma Inheritance Study in Tasmania after 25 years.

Genetic risk of glaucoma is associated with vascular and retinal nerve fibre wedge defects.

Individuals with a higher genetic risk of glaucoma based on the PRS were more likely to have retinal vascular defects, as well as structural glaucomatous loss, but this did not relate to systemic cardiovascular risk.

Uptake of Polygenic Risk Testing for Glaucoma in Unaffected Individuals.

This is the first study to demonstrate the potential uptake of polygenic testing for glaucoma among an unaffected population.

Association of Polygenic Scores for Glaucoma With Measures of Retinal Ganglion Cell Integrity in Young and Older Adults.

Associations between PGS and optic disc measures were present from young adulthood, but the effect sizes were greater in older adults.

A Multitrait Polygenic Risk Score for Open-Angle Glaucoma Stratifies Risk of Pigmentary Glaucoma in Pigment Dispersion Syndrome.

A multitrait PRS for open-angle glaucoma stratifies risk of glaucoma onset and disease severity among individuals with PDS.

Healthcare professionals' knowledge and attitudes towards polygenic risk testing for glaucoma.

Our findings indicated that multiple groups of healthcare professionals were neither familiar nor confident with the concept of glaucoma polygenic risk testing, and identified training and education needs to support the implementation of testing into…

Author Response: Stronger Association of CDKN2B-AS1 Variants in Female Normal-Tension Glaucoma Patients in a Japanese Population.

Intravitreal bevacizumab improves trabeculectomy survival at 12 months: the bevacizumab in trabeculectomy study-a randomised clinical trial.

Bevacizumab given as a single intravitreal dose during trabeculectomy with MMC resulted in improved surgical success as 12 months.

Genetic Association at the 9p21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension Glaucoma.

This study demonstrated that female sex is a risk factor for developing advanced NTG.

Ibopamine challenge testing becomes negative following successful trabeculectomy surgery.

A glaucoma patient with a positive ibopamine challenge will show a negative challenge result when re-tested following trabeculectomy surgery.

Ibopamine challenge testing differentiates glaucoma suspect, stable glaucoma and progressive glaucoma cases.

GS patients may be differentiated from those with SG or PG by their IOP response, and SG may be differentiated from PG patients by their change in OCV following an ibopamine challenge.

Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma.

We demonstrate that some clinically important rare variants can be reliably detected using arrays and imputation.

Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss.

Patients with advanced JOAG based on visual field loss had enrichment of CYP1B1 pathogenic variants and a more severe phenotype compared with unaffected controls and patients with nonadvanced JOAG.

Severe intraocular pressure response to periocular or intravitreal steroid treatment in Australia and New Zealand: data from the Australian and New Zealand Ophthalmic Surveillance Unit.

Severe intraocular pressure elevation following intravitreal or periocular corticosteroid injection can occur in the absence of risk factors such as personal and family history of glaucoma. The severe intraocular pressure elevation may ultimately require trabeculectomy.

Does the association between TMEM98 and nanophthalmos require further confirmation?-Reply.

Screening phenotypically normal Caucasian Australians for the lysyl oxidase-like 1 gene.

Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma.

We report the presence of TBK1 copy number variations in our Australian normal-tension glaucoma cohort, including the first example of more than 1 extra copy of this gene in glaucoma patients (gene triplication).

Association of open-angle glaucoma loci with incident glaucoma in the Blue Mountains Eye Study.

This study shows that previously reported genetic variations related to OAG and cup-to-disc ratio are associated with the onset of OAG and thus may become useful in risk prediction algorithms designed to target early treatment…

Identifying content for the glaucoma-specific item bank to measure quality-of-life parameters.

The systematic content identification process identified 10 QOL domains, which were important to patients with glaucoma.