You searched for "genetic"
Difference in retinoblastoma phenotypes based on maternal or paternal inheritance
The aim of this study was to explore the difference in presentation of retinoblastoma between paternal and maternal inheritance. A retrospective medical records review methodology was employed. Records of individuals diagnosed with a retinoblastoma with at least one symptomatic family...
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...
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...
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...
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...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...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...
