You searched for "genetic"
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...
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....Retinoblastoma management update (part 1): clinical features, diagnosis and genetics
The first of a two part series, this article will discuss the clinical features, diagnosis and genetic aspects of retinoblastoma. Manoj Parulekar is based at Birmingham Children’s Hospital, one of the two designated national retinoblastoma and paediatric ocular oncology treatment...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...
Ovarian hormones drive onset of Sjogren’s disease in mice
Sjogren’s syndrome (SS) is a debilitating, sight-threatening, systemic autoimmune disease with no effective treatment available. SS is characterised by lacrimal gland lymphocytic infiltration and epithelial cell death, as well as by the presence of serum autoantibodies. Patients have severe dry...
FEVR characteristics
The authors report a series of 16 cases of familial exudative vitreoretinopathy (FEVR) in Northern Ireland (NI) to characterise the genetic patterns and identify other common characteristics relevant for current and future practice. This was a retrospective study including 12...
