You searched for "genetics"
Differences of the anterior segment parameters in children with Down syndrome
This cross-sectional study was designed in order to demonstrate the differences in anterior segment parameters in children with trisomy 21. This is important as it may impact on surgical planning when undertaking procedures in the anterior segment such as corneal...
Microvascular disease in Alport syndrome
The authors present the findings of a retrospective case-control observational study on increased microvascular disease in individuals with Alport syndrome recruited over a 21-year period. They recruited 28 males and 28 females with X-linked Alport syndrome (XLAS) and eight men...
Driving with retinitis pigmentosa
The authors present a study of 228 consecutive patients with a clinical or genetic diagnosis of retinitis pigmentosa. Data was collected prospectively between January 2012 and October 2022 in Perth, Australia. The study aimed to determine the proportion of patients...
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...
Ethnic disparities in diagnostic sequencing yield
The authors present a systematic review and meta-analysis of the diagnostic yield of next generation sequencing (NGS) for inherited retinal diseases and compare yield from studies performed primarily on patients of European descent from those primarily of East Asian descent....Genetic profiling for personalised healthcare solutions in AMD – an update
Age-related macular degeneration (AMD) is a multifactorial condition influenced by genetics and lifestyle factors (Table 1). This article outlines several recent advances in AMD genetics, as well as evolving therapeutic concepts and established practical measures for the treatment and /...Bosch-Boonstro-Schaaff optic atrophy syndrome (BBSOAS) NR2F1 mutation
An experienced ophthalmologist can make an anatomical diagnosis of childhood visual impairment based upon the surgical sieve, i.e., congenital and acquired. But an ophthalmologist cannot work in isolation to make an aetiological diagnosis – one would require the help of...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...Usher syndrome: an overview
Usher syndrome is the most common hereditary condition that affects both vision and hearing. It is an autosomal recessive condition characterised by retinitis pigmentosa (RP) and bilateral sensorineural hearing loss [1,2]. Usher syndrome is the cause of approximately 10% of...New webinar series on sight loss and genomic research
A new webinar series highlighting the latest scientific developments and the future of research will be launched next week.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...
