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.

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 be made much simpler once broken down into pertinent information that should be communicated.

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.

In our bodies, there are several tissues that can limit their inflammatory reactions. These tissues are, the eye, brain, testes, placenta, and foetus (3, 4). However, the question is, why does IP exist in these tissues specifically? Taking the eye as an example, its function relies on the clarity of the visual axis and constituent tissues such as the corneal endothelium and some elements of the retina, which are amitotic and unable to regenerate. Thus, collateral damage from inflammatory responses would lead to severe consequences.

Leber hereditary optic neuropathy (LHON) is one of the most common ophthalmological mitochondrial disorders, characterised by optic neuropathies resulting in bilateral central vision loss. A point mutation in mitochondrial DNA, most common being G3460, G11778A and T14484C, results in disruption of the retinal ganglionic cells due to dysregulation of the respiratory chain. The worldwide prevalence since it was first described in 1858 is approximately 1 in 50,000. As it is a mitochondrial disorder, it mainly effects young males in their second or third decade of life with males being 5 times more likely to be afflicted.