You searched for "genetic"
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...An update on inherited retinal disorders (part 1) – overview and assessment of inherited retinal disease
Part 2 of this topic can be found here Inherited Retinal Disease (IRD) is the leading cause of blindness certification in the working age population (age 16-64 years) in England and Wales and the second most common in childhood [1]....Exploiting nature’s randomised trials of eye disease
Confounding and reverse causation in observational ophthalmic epidemiology Traditional observational studies are inherently limited in establishing a causal effect of an exposure on an outcome of interest. One fundamental limitation is confounding, whereby causation is incorrectly attributed to a third...
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...
Leber’s hereditary optic neuropathy outcomes in an Indian population
A large cohort study in an Indian population is presented, with clinical and genetic profile analysis of patients with Leber’s hereditary optic neuropathy (LHON) treated over a five-year period. The study included 157 patients; 143 male, 14 female (10.2:1 ratio)...
Familial Mediterranean Fever and keratoconus
This retrospective case control study was conducted in the Genetic Diagnostic Centre in Turkey. It examined the prevalence of keratoconus in two groups; patients with Familial Mediterranean Fever (FMF) and age matched controls free of FMF, who were tested for...
