The phenotypic spectrum of associated ectopia lentis: Additional cases, complications, and review of literature.

Purpose: associated ectopia lentis is a rare autosomal recessive condition that is primarily associated with crystalline lens displacement. However, the prevalence of other ocular and systemic manifestations of this condition is poorly understood. In this study, we summarize the ocular and systemic phenotypic spectrum of this condition.

The E4 Allele Is Associated with Faster Rates of Neuroretinal Thinning in a Prospective Cohort Study of Suspect and Early Glaucoma.

Purpose: To investigate the association between the apolipoprotein E () E4 dementia-risk allele and prospective longitudinal retinal thinning in a cohort study of suspect and early manifest glaucoma.

Design: Retrospective analysis of prospective cohort data.

Participants: This study included all available eyes from participants recruited to the Progression Risk of Glaucoma: Relevant SNPs [single nucleotide polymorphisms] with Significant Association (PROGRESSA) study with genotyping data from which genotypes could be determined.

Genetic Risk of Cardiovascular Disease Is Associated with Macular Ganglion Cell-Inner Plexiform Layer Thinning in an Early Glaucoma Cohort.

Purpose: To evaluate the association between genetic risk for cardiovascular disease and retinal thinning in early glaucoma.

Design: Prospective, observational genetic association study.

Participants: Multicohort study combining a cohort of patients with suspect and early manifest primary open-angle glaucoma (POAG), a cohort of patients with perimetric POAG, and an external normative control cohort.

Quality of life in children with glaucoma: a qualitative interview study in Australia.

Objective: Childhood glaucoma is a chronic vision-threatening condition that may significantly impact an individual's psychosocial well-being. There is a paucity of literature investigating the quality of life (QoL) in children with glaucoma. The aim of this study was to investigate and report on the QoL issues encountered by children with glaucoma.

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

Purpose: Axenfeld-Rieger syndrome encompasses a group of developmental disorders affecting the anterior chamber structures of the eye, with associated systemic features in some cases. This study aims to compare the difference in anterior segment phenotypes such as those involving the cornea, iris, lens, and anterior chamber angle between cases with disease-causing sequence variations in FOXC1 and PITX2 .

Methods: This cross-sectional study involved 61 individuals, from 32 families with pathogenic FOXC1 or PITX2 variants, who were registered with the Australian and New Zealand Registry of Advanced Glaucoma.

RNA Sequencing of Lens Capsular Epithelium Implicates Novel Pathways in Pseudoexfoliation Syndrome.

Purpose: Pseudoexfoliation syndrome (PEX) is a common systemic disease that results in severe and often irreversible vision loss. Despite considerable research effort, PEX remains incompletely understood. This study sought to perform the first RNAseq study in elucidate the pathophysiology of PEX, and contribute a publicly available transcriptomic data resource for future research.

The Caregiver Experience in Childhood Glaucoma: An Interview Study.

Purpose: To investigate and report on the quality-of-life (QoL) issues experienced by caregivers of individuals with childhood glaucoma.

Design: Exploratory, qualitative study.

Participants: Thirty-five caregivers of individuals with childhood glaucoma (defined as disease onset before 18 years of age) recruited from the Australian and New Zealand Registry of Advanced Glaucoma.

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

Purpose: To explore and report on the quality-of-life (QoL) issues encountered by adults with childhood glaucoma.

Design: Exploratory qualitative study.

Participants: Forty-seven participants with childhood glaucoma (defined as disease onset <18 years) recruited from the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG).

A novel GSN variant outside the G2 calcium-binding domain associated with Amyloidosis of the Finnish type.

Gelsolin (GSN) variants have been implicated in amyloidosis of the Finnish type. This case series reports a novel GSN:c.1477T>C,p.

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

Purpose: To report the relative frequencies of childhood and early onset glaucoma subtypes and their genetic findings in a large single cohort.

Design: Retrospective clinical and molecular study.

Participants: All individuals with childhood glaucoma (diagnosed 0 to <18 years) and early onset glaucoma (diagnosed 18 to <40 years) referred to a national disease registry.

Impact of cardiometabolic factors on retinal vasculature: A 3 × 3, 6 × 6 and 8 × 8-mm ocular coherence tomography angiography study.

Background: Ocular coherence tomography angiography (OCTA) is available in varying size and resolution. We sought to characterise associations of cardiometabolic factors with retinal microvascular changes using 3 × 3, 6 × 6 and 8 × 8-mm OCTA scans to determine differences in detection with varying scan size.

Methods: Cross-sectional study of 247 cardiovascular patients from a single-centre tertiary-care hospital.

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

Purpose: To investigate corneal stiffness parameters (SPs) as predictors of future progression risk in glaucoma suspect eyes.

Design: Prospective, longitudinal study.

Participants: Three hundred seventy-one eyes from 228 primary open-angle glaucoma suspects, based on optic disc appearance, with normal baseline Humphrey Visual Field (HVF; Carl Zeiss Meditec) results.