You searched for "Genetics"
Genetic analysis of choroideremia families
Choroideremia (CHM) is a rare X linked recessive chorioretinal dystrophy. Symptoms include nyctalopia and progressive peripheral field loss. Female carriers may have mild symptoms. Choroideremia is known to be caused by a mutation in the CHM gene. A multicentre human...
Online retinoblastoma surveillance tool
Given the vision and life-threatening course of retinoblastoma (RB), it has become a significant heritable childhood cancer to screen for. To recommend surveillance, risk must be estimated and genetic testing plays a vital role. However, genetic tests vary based on...UK Paediatric Glaucoma Society Annual Meeting 2025
by Hussain Aluzri, Junior Glaucoma Cinical Research Fellow, Birmingham Midland Eye Centre, UK. The UKPGS 2025 conference was another resounding success, held on 24 January 2025 at the Cavendish Conference Centre, London. The event commenced with an opening address by...
Germline mutation risk in solitary unilateral retinoblastoma
This study aimed to determine the true risk for germline mutation in a child presenting with solitary unilateral RB and whether this risk differs by age at presentation. This was a retrospective review of 482 cases from 1972-2020. Age groups...
Patient-reported outcomes in oculoplastic surgery
This is an important if somewhat difficult to grasp article which tries to formally address the subject of patient-reported outcomes in oculofacial surgery. The authors have conducted an extensive review of the literature searching for instruments (questionnaires) which have been...
Ophthalmology
The textbook is a large, single volume that ideally needs to be desk or table-supported, as its sheer weight makes it virtually impossible to rest comfortably on ones lap. The book is compiled by its two lead authors and editors...Congenital and paediatric cataract: Advances in diagnosis and management
Congenital and paediatric cataracts are relatively rare, although prevalence varies significantly between countries, influenced by factors such as nutrition, immunisation policy and population genetics [1]. In the UK, around 3–4 of every 10,000 babies are born with cataracts. It’s a...3rd Ophthalmic Drug Delivery Summit
Translating Long Lasting Efficacy & Less Invasive Retinal Drug Delivery The importance of matching the right drug delivery route to the right ophthalmic disease is more pressing than ever. The 3rd Ophthalmic Drug Delivery Summit is the premier gathering for...Yorkshire Retina Society Winter Meeting 2024
by Madiah Mahmood, Junior Medical Education Fellow, Bradford Teaching Hospitals and Foundation Trust, UK; Ewan McCallum, Consultant Ophthalmologist, Bradford Teaching Hospitals and Foundation Trust, UK. The Yorkshire Retina Society is one of the largest regional subspecialty societies in the UK,...
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)...
Differential inhibition of EAU by CTLA4 and IL-6
Cytotoxic T lymphocyte antigen-4 (CTLA4) binds both CD80 and Cd86 and inhibits T lymphocyte activation via CD28. Il-6 is a pleiotropic cytokine that has been associated with many autoimmune conditions including uveitis. Blockade of these molecules by either CTLA4-Ig, a...
