You searched for "genetic"
Congenital aniridia with or without retinal detachment
The authors present the clinical and molecular genetic evaluations performed on a large Iranian pedigree with 26 aniridia affected patients in four generations and some with retinal detachment. Members of the family affected with aniridia were invited to participate after...The International AMD Genomics Consortium study: another success in understanding the complex genetics of AMD
Age-related macular degeneration (AMD) is a neurodegenerative complex disease of the eye and a major cause of blindness and visual impairment among the elderly worldwide. The early stages of the disease are characterised by asymptomatic pigmentary abnormalities and accumulation of...UK Eye Genetics Group (UK-EGG) 2024
The meeting will be chaired by Ms Neeru Vallabh (Consultant Ophthalmologist, Liverpool University Hospital Foundation Trust and Senior Clinical Lecturer, University of Liverpool). The UK Eye Genetics Group annual meeting serves as an unique platform for experts, researchers, and professionals in the field of eye genetics to exchange knowledge and collaborate on cutting-edge research as well as advancements in the field. This year's event promises to be a stimulating and enriching experience whilst featuring keynote presentations, panel discussions, poster sessions, and ample networking opportunities.Neurofibromatosis type 2 – diagnosis, features and MDT approach
NF2 is a genetic condition caused by mutation in a single gene (NF2 gene) on chromosome 22. The NF2 gene provides instructions to produce a protein called merlin, also known as schwannomin. This protein functions as a tumour suppressor, preventing...
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...7th European Aniridia Conference
The European Aniridia Conference is a biannual conference that brings together researchers, practitioners and diagnosis carriers to share the latest scientific know-how, experiences and ideas about the rare genetic condition aniridia and aniridia-related diseases.
Germline testing for uveal melanoma
The authors present a study of 114 consecutive patients presenting with uveal melanoma. Between 1 December 2019 and 1 November 2021 all patients over 18-years-old presenting to their centre with uveal melanoma were offered germline testing for variants in BAP1,...
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...Gene therapy for inherited retinal disease: the Manchester Ocular Gene Therapy Group MDT service
The authors describe the process set up in Manchester for the optimum delivery and assessment of a new gene therapy treatment for patients with RPE65 IRD. Inherited retinal dystrophies (IRDs) are the second commonest cause of severe visual impairment in...
Reliability of kinetic perimetry in children and young adults
This study reports on normative visual field area, feasibility and repeatability of testing for a large sample size of healthy children and young adults, using Octopus semi-automated kinetic perimetry. Sample included 221 healthy volunteers aged 5-22 years. The study was...
