You searched for "Genetics"
RANZCO Congress 2025
The Royal Australian and New Zealand College of Ophthalmologists Annual Congress 2025
Septo-optic dysplasia – a case note review
Septo-optic dysplasia (SOD) is a congenital disorder belonging to the midline brain malformation group. The condition manifests as a classical triad, including optic nerve hypoplasia (ONH), agenesis of midline structures (absent septum pel-lucidum and agenesis of the corpus callosum), and...
Complement factor B polymorphism and the phenotype of early age-related macular degeneration
The relationship between complement factor H (CFH) and age-related macular degeneration (AMD) is very well known, but other genetic polymorphisms relating to AMD are more poorly understood. This study was designed to investigate the relationship between complement factor B (CFB)...
Myopia in Han Chinese
The authors present a case-control study of 361 patients with high myopia (mean spherical equivalent of -6.0DS or lower, and axial length greater than or equal to 26mm) and 749 healthy controls (mean spherical equivalent -1.0 to +1.0DS). They tested...
Updated staging of LCHADD retinopathy
The authors present their proposal for an updated staging system for Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) deficiency retinopathy. This is a rare mitochondrial disease due to deficiency of the long chain fatty acid oxidation pathway. Forty patients who were part of...
Characteristics of central serous chorioretinopathy by age
The authors present a cohort study of 326 patients with simple central serous chorioretinopathy (CSC) according to the classification system laid down by Chhablani, et al. in 2020. Genotyping for two variants of the CFH gene rs800292 and rs1329428 was...
Basic and Clinical Science Course: Fundamentals and Principles of Ophthalmology 2019-2020 (updated textbooks)
The American Academy of Ophthalmology (AAO) has updated a few more books for the 2019-2020 version of their textbooks. They come with the same clean matt finish, but the colour scheme is a bright sunshine yellow instead of green. Although...Researchers identify a novel genetic cause of Fuchs endothelial corneal dystrophy
Researchers identify a novel genetic cause of Fuchs endothelial corneal dystrophy, offering new ways for future therapies to target this common, age-related cause of visual loss. In a landmark study, researchers supported by NIHR Moorfields Biomedical Research Centre, have identified...
Effects of market competition on the price of topical eye drops in the US
The authors retrospectively examined the relationship between the number of Federal Drug Administration (FDA)-approved manufacturers and the price change of generic and branded topical eye medications based on the formulations listed in the FDA Orange Book and the National Average...
