You searched for "genetic"
Patient perspectives on inherited retinal diseases
The authors present a qualitative study of patient perspectives on living with inherited retinal diseases based on social media engagement. Social media posts from 6 sites were analysed over a 10-year period. Data was extracted manually by the research team,...
Science maps to outline emerging topics in strabismus
Science maps show the current status of research in a specific field – a form of scientometrics. Co-word analysis is an example of graphic modelling in which keywords are used to study the conceptual structure of a research field. In...UK Eye Genetics Group (UK-EGG) 2024
by Mohammed Aslam, FY 3 Doctor, Calderdale and Huddersfield NHS Foundation Trust, UK. Founded in 2002, the UK EGG provides a hub to share knowledge on inherited eye disease and train the next generation of clinicians and scientists. This year’s...
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...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...
Choroideremia in women
The authors report a questionnaire-based study of female carriers of choroideremia, an X-linked inherited chorioretinal dystrophy. As an X-linked condition the full clinical features are predominantly seen in men but a proportion of women suffer some morbidity, likely due to...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...
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...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.
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...RANZCO Congress 2025
The Royal Australian and New Zealand College of Ophthalmologists Annual Congress 2025
