Leber’s Hereditary Optic Neuropathy (LHON) is a mitochondrial disorder characterised by severe vision loss, often manifesting in young adulthood. It was first described by Theodore Leber in 1871, but the pattern of inheritance was not confirmed until 1988 by Wallace et al. It is one of the most common inherited optic neuropathies, with the hallmark being bilateral, painless central vision loss.

Best vitelliform macular dystrophy, also known as Best disease, was initially described by Adams in 1883 but was named after Dr. Friedrich Best, who provided a detailed account of the condition in 1905. It is the second most common macular dystrophy after Stargardt disease and the most prevalent autosomal dominant macular dystrophy. The disease arises from mutations in the BEST1 gene located on chromosome 11q13, which encodes bestrophin, a transmembrane ion channel found on the plasma membrane of the retinal pigment epithelium (RPE).

Behçet’s disease (BD) is a chronic, relapsing, systemic vasculitis that affects both arteries and veins. It can involve a range of organ systems, with hallmark features including oral and genital ulcers and ocular inflammation. Due to the lack of a specific biomarker and the heterogeneous presentation, BD is often diagnosed late in its course. Early recognition and treatment are critical to preventing serious complications, particularly vision loss. This article aims to provide an in-depth understanding of BD, with an emphasis on its ophthalmological implications.

A common objective structured clinical examination (OSCE) station for medical students is an ophthalmology station where students are required to examine the eye and communicate their findings. In many medical schools in the United Kingdom (UK), a mannequin is used where pictures can be inserted in the mannequin’s eye of fundus images with pathologies. It is often an area of anxiety for students as they have little practice examining patients’ eyes. Below the steps involved in examining the eye and communicating findings, in a 10-minute OSCE station, are examined.

Cataract is a condition of clouding of the natural lens that resides within the eye. Its normal function is to focus the incident light beams entering the eye through the cornea onto the fovea of the retina, where specialised photoreceptors reside and, through geometric isomerisation of the retinal chromophore, send information about the incident light intensity and frequency to the brain for further processing. When the lens  clouds, the incoming light is both decreased in intensity and distorted leading to the distorted perception of the external world by the patient.

Artificial Intelligence in the last 5 years, seems to have become a buzzword across all industries in the pursuit of increased efficiency. Its use has transcended cultural and industrial boundaries, an represents a new frontier within technology that can allow for seemingly impossible tasks or problems to now be solved with a fraction of the manpower. There is no generally accepted definition of the concept of AI, however John McCarthy, a computer scientist who coined the term artificial intelligence in the famous Dartmouth Conference in 1956, regarded AI as ‘the science and engineering of making machines that are smart.’ Without taking part in the philosophical argument of what constituted true intelligence, it can be broadly defined as the development and simulation of computer systems that mimic human learning, comprehension, problem solving and, potentially, autonomy.

Tuberculosis is an infection caused by Mycobacterium tuberculosis, which can manifest in multiple organs, most commonly the lungs, but can also affect the eye. The unique aspect of infection by M. tuberculosis is the complex interplay that occurs with the host immune system, leading to chronicity of the infection. When initial infection occurs, it promotes a type IV hypersensitivity reaction leading to the recruitment of alveolar macrophages that attempt to phagocytose and destroy the bacilli. However, when they fail, the bacteria multiplies within the intracellular matrix and bursts out, leading to the recruitment of more macrophages and a domino effect ensues. Lymphocytes are then recruited and form a granuloma to contain the infection. In immunocompetent individuals, this can lead to resolution of infection or indefinite latency. In the setting of immunocompromised patients, the disease can progress to active TB.

Morning Glory Syndrome (MGS) is a rare congenital optic disc anomaly, first described by Pedler in 1961 and later widely recognised by Kindler in 1970. The condition is named for the resemblance of the optic disc to the trumpet-shaped morning glory flower. MGS is characterised by a funnel-shaped optic disc with a central glial mass and surrounding retinal pigmentary changes. It is typically unilateral and can lead to variable visual impairment, ranging from normal acuity to legal blindness.

Multiple evanescent white dot syndrome, or MEWDs, was first described by Jampol and colleagues in 1984. It is categorised as a white dot syndrome (WDS), a group of inflammatory chorioretinopathies which clinically present as numerous, discrete white lesions affecting multiple layers of the retina including the retinal pigment epithelium (RPE), choroid and choriocapillaris. Other white dot syndromes include acute retinal pigment epitheliopathy (ARPE), acute posterior multifocal placoid pigment epitheliopathy (APMPPE), multifocal choroiditis and panuveitis (MCP) acute zonal occult outer retinopathy (AZOOR), punctate inner choroidopathy (PIC), serpiginous choroidopathy and birdshot chorioretinopathy. MEWDs is a unilateral condition which typically presents in women aged 20-50 years with a viral prodrome and has a benign and self-limiting course. The white dot syndromes are a rare entity with one multi-centre study calculating the incidence of WDS as 0.45 cases per 100,000, whilst other studies have reported the incidence of MEWDs as 0.22 per 100,000 population annually. We will provide an overview of this rare condition characterising its clinical presentation, clinical course and findings on ophthalmic imaging.

Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is a rare genetic disorder resulting from mutations in the NR2F1 gene, known for its role in brain and ocular development. The syndrome, initially described by Bosch, Boonstra, and Schaaf, presents a spectrum of symptoms, with significant ophthalmologic involvement being central to its clinical picture. Visual impairment is often among the first indicators and a major contributor to the overall impact of the condition on affected individuals.