You searched for "genetic"
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...
Features of branchio-oculo-facial syndrome
Branchio-oculo-facial (BOF) syndrome is an autosomal dominant inherited syndrome that typically presents with branchial cleft sinus defects, ocular anomalies and dysmorphic facial appearance. The authors present a new case alongside the results of a literature review describing the common genetic...RSM (Royal Society of Medicine) Squint Forum 2023
This year’s annual Squint Forum meeting will be split into three sections. We will firstly examine Paediatric medical retina – with a focus on current research, genetics and ROP.insitro and UK’s INSIGHT at Moorfields Eye Hospital announce collaboration to expand research efforts in neurodegeneration and related conditions
The world’s largest bioresource of eye images offers window into human health and serves as basis of a new AI foundation model to boost drug discovery. insitro, a machine learning-enabled drug discovery and development company, and the INSIGHT Health Data...Breakthroughs in the genetics of angle-closure glaucoma
Angle closure glaucoma (ACG) is not widely known to be a familial condition, yet the recent explosion of genetic data and large scale genome wide investigations have confirmed at least 13 genetic loci associated with ACG [1], and provided some...
