You searched for "genetic"
Vici syndrome
Vici syndrome is a condition associated with agenesis of the corpus callosum, congenital cataract, incomplete albinism, ± immunodeficiency and cardiomyopathy. Individuals show profound hypotony and severe neuro abnormalities. This paper reports a case of Vici syndrome. A 38-month-old female had...My experience of the transition into a specialist orthoptist role
Michelle Dent discusses the process of transitioning into a new role and the pros and cons along the way. An opportunity arose for a permanent, full time, band 7 specialist role in the medical retina (MR) team in the Newcastle...My ophthalmic elective: focusing on myopia in Taiwan
The authors describe their elective experience and delve further into high myopia, an emerging ophthalmic disease that is increasingly recognised in and outside Asia. The medical school elective programme presents an opportunity for students to conduct learning in their chosen...In conversation with Andy Pyott
Discussing a detour into ophthalmology from zoology in 1988, experiences in Asia, sub-Saharan Africa and Europe and the National Treatment Centre – Highland, Baljean Dhillon interviews his newest guest on the Eye Views podcast, Andy Pyott. Take us back to...
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...Typical or surprisingly uncharacteristic presentations of neuro-ophthalmic emergencies
Irrespective of geographical location or patient cohort, emergency departments are high risk locations capable of inspiring extreme anxiety and dread in patients and doctors alike. The stress multiplies when a walk-in or referred case is suspected of underlying neurological pathology....Retinoblastoma – the challenges of a rare cancer and the role of international partnerships
Introduction: the global challenge The global burden of retinoblastoma (Rb) is one in 15,000-18,000 live births, which equates to 8000 new cases worldwide each year. The global disparities in Rb outcome represent a paradigm of health inequality worldwide [1]. In...Inaugural IP education session hailed a hit
A pioneering session has brought together a group of independent prescribers to create content ‘for practitioners by practitioners’ for use in real world scenarios.Sickle cell eye disease: an overview of vitreoretinal complications and their surgical management
Sickle cell disease is the most common genetic disorder worldwide and is associated with lifelong anaemia, intermittent pain and multi-organ morbidity. Ocular involvement can be associated with significant visual impairment due to the complications of proliferative sickle retinopathy (PSR). Occasionally...
