Ocular sarcoidosis typically presents either to the uveitis or neuro-ophthalmic service, depending on the compartment affected. Here we present a case of a 70-year-old woman who developed profound right eye visual loss to hand movements over two weeks with unilateral disc swelling and optic neuropathy. OCT demonstrated the dynamics of vertically migrating intraretinal hyperreflective foci, subretinal fluid, choroidal thickening and vitreous haze. Intracranial and orbital imaging, blood tests, lumbar puncture and whole-body PET MRI excluded neoplastic, infiltrative, inflammatory, infectious and known auto-immune causes. Treatment with corticosteroids led to rapid improvement of symptoms and the final visual outcome was good: pinhole acuity 0.3 with 10/17 Ishihara plates correctly identified, though a central scotoma remained. A literature review suggests that intraretinal sarcoidosis may be a novel, OCT-supported manifestation of this systemic disease. OCT permits dynamic monitoring of the inflammatory response on a cellular level between three adjacent compartments. These findings highlight the importance of multidisciplinary management of sarcoidosis, with OCT as a central part of the standard work-up.
In my experience, ophthalmological issues are often underestimated, in many situations considered comparably less important than other ongoing medical issues. Despite this, newly qualiﬁed foundation doctors must be able to recognise some of the most serious, most urgent and most common ophthalmological problems, at a minimum.
Pigment dispersion syndrome (PDS) and its potential sequel, pigmentary glaucoma, are characterized by the anomalous dispersion of pigment granules within the ocular structures. This overview discusses the clinical manifestation of these conditions and the management options including medical, laser and surgical treatment.
Best disease or Best vitelliform macular dystrophy (BVMD) is a rare autosomal dominant condition due to a BEST1 gene mutation with highly variable expression. It typically presents in childhood; however, most patients retain reading vision beyond the fifth decade. It is characterised by egg-yolk-like vitelliform lesions in the macula. The condition is named after Dr Friedrich Best who described the detailed pedigree of the disease in 1905. This overview will summarise the aetiology, pathophysiology, diagnosis and management of Best disease.
Cataract describes clouding of the lens which leads to scattering of light. Lens abnormality accounts for up to 20% of paediatric blindness globally and congenital cataract affects around 2 per 10,000 births. The term congenital cataract is often used synonymously with infantile cataract, despite the former more strictly referring to cataract present at birth as opposed to present within the first year of life.
Adam Hatoum As a junior doctor, knowing how to make appropriate referrals to specialists is essential for ensuring optimal patient care. What can often seem like a daunting task can…
Stargardt disease is an autosomal recessive condition characterised by a mutation in the adenosine binding cassette transporter 4 (ABCA 4) gene, which is pivotal in the normal physiological metabolism of vitamin A. This loss of function of the ABCA 4 gene results in damage to the retinal cells from vitamin A dimers which are not metabolised normally and causes a build-up of lipofuscin within the retinal pigment epithelium (RPE) of the retina. Stargardt disease is one of the most common causes of macular dystrophy in young adults, the prevalence of Stargardt disease within the western world is approximated to be 1-10 per 100,000.
The nature of the medical field is such that large volumes of information need to be committed to memory and contextualised and recalled in many different settings such as simulated OSCEs, in a Viva and in clinical scenarios too. Whether it is in medical school examinations, or whether you are preparing for the FRCOphth exams, utilising effective studying techniques can benefit everyone in terms of encoding key concepts to long term memory and allowing for greater retention over time.
Curriculum 2024 is the new curriculum for Ophthalmology trainees commencing August 2024, with the new e-Portfolio pilot launching August 2023. This article aims to highlight key changes regarding the new curriculum and how this may impact ophthalmology trainees. All information has been acquired from the Royal College of Ophthalmology website and presentations at the Royal College of Ophthalmology Congress in May 2023.
Thyroid eye disease (TED) is an autoimmune inflammatory disorder of the orbit related to autoimmune thyroid disease. It results in several disabling ocular sequelae, significant ocular morbidity and can be sight-threatening in severe cases. In over 90% of cases, TED is most often associated with Graves’ disease, with an overall prevalence of 40% in Graves’ disease patients (2). Risk factors for the development of TED include cigarette smoking, being female, increased age, thyroid dysregulation amongst others. TED is evaluated based on two main criteria; clinical activity most commonly categorised through the use of the Clinical Activity Score and severity scoring through the use of the EUropean Group on Graves’ Orbitopathy (EUGOGO) guidelines.