You searched for "Genetics"

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Twenty-five years in retina

In the next of our articles celebrating 25 years of Eye News, the authors look at how the retina specialty has changed over this time and ask what the future might hold. Retinal disease management has benefited from great advances...

Case reports of neuro-visual consequences of mild COVID-19 in children

Neuro-visual involvement has been reported in numerous patients with severe SARS-CoV-2 disease, mainly among adult patients. In children, such involvement has been reported in rare cases, often in those presenting with severe forms of COVID-19. The aim of this work...

Differential inhibition of EAU by CTLA4 and IL-6

Cytotoxic T lymphocyte antigen-4 (CTLA4) binds both CD80 and Cd86 and inhibits T lymphocyte activation via CD28. Il-6 is a pleiotropic cytokine that has been associated with many autoimmune conditions including uveitis. Blockade of these molecules by either CTLA4-Ig, a...

γδ T cell depletion does not affect fungal keratitis

Fungal keratitis (FK) is a blinding condition prevalent in agricultural areas of countries such as India and China. The fungus enters the cornea and induces an inflammatory response which leads to tissue damage. Neutrophils are the earliest infiltrating immune cells...

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...

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...

Intraocular Inflammation

Intraocular Inflammation is an encyclopedic treatise on uveitis. The editors have invited several experts in the field to author different chapters and provide the reader with an excellent repository of knowledge, experience and evidence on the subject. The approach to...

Vaughan and Asbury’s General Ophthalmology (19th edition)

Vaughan and Asbury’s General Ophthalmology (19th edition) is the latest update of this classic ophthalmology textbook that has been around for nearly 60 years. Written by British, American and Canadian authors, this book is intended for an international readership and...

The Duke Elder Exam of Ophthalmology: A Comprehensive Guide for Success

The Duke Elder Exam is an annual competitive national undergraduate exam organised by the Royal College of Ophthalmologists. This two-hour exam consists of 90 multiple-choice questions (MCQs) and examines clinical ophthalmology, ocular physiology, anatomy, pathology, genetics and socio-economic medicine related...

Patient reported outcomes in adolescents with inherited retinal diseases

This was a two-centre validation study of two sets of patient reported outcome measures (PROMS) for adolescents (13-17- years-old) with inherited retinal diseases. The measures were the Michigan Retinal Degeneration Questionnaire (MRDQ) and the Michigan Vision-Related Anxiety Questionnaire (MVAQ). Both...

CD40L activation of human RPE cells

Age-related macular degeneration (AMD) is the leading cause of reduced visual acuity in the elderly worldwide. The risk factors involved in AMD include smoking and diet, while genetics have been shown to have a significant role. Recently a link between...

PRPF31-related retinitis pigmentosa and asymptomatic carriers

The authors present a study of 21 patients with variants in the PRPF31 gene classified as pathogenic or likely pathogenic. These variants are caused by autosomal dominant retinitis pigmentosa (RP-11). Between January 2020 and November 2021 patients underwent tests of...