Incontinentia Pigmenti (IP), also called Bloch-Sulzberger syndrome is a rare genetic disorder primarily caused by mutations in the NEMO gene (Nuclear Factor-kappa B Essential Modulator) also known as the IKBKG gene. It is a primary immunodeficiency disorder that affects the skin, hair, teeth, eyes, and central nervous system.
Retinoblastoma is the most common paediatric intraocular malignancy, accounting for around 3% of all childhood cancers. Due to their aggressive and potentially life-threatening nature, early diagnosis and treatment are essential. Recent advances in genetic testing, imaging, and targeted therapies have significantly improved outcomes in those affected by retinoblastoma. This article explores the latest advancements in the diagnosis and management of this potentially life-threatening disease.
Deciding to embark on a career in ophthalmology has been a profoundly rewarding journey, marked by a commitment to mastering both theoretical knowledge and practical skills. Among the most valuable aspects of the application process has been the pursuit of ophthalmic surgical simulation experience. This reflection explores the structured steps one can take to develop surgical skills and the insights gained from these experiences.
Ophthalmology services receive a high volume of patients and according to The Royal College of Ophthalmologists, in the UK this specialty was the highest volume specialty resulting in 8.1% hospital outpatient visits nationally in 2018-2019. Carbon emissions released when travelling to and from clinics and follow-up appointments, excess equipment in surgical packs, incorrectly disposed items also lead to high waste output. Within ophthalmology, there are numerous ‘single-use’ protocols required which ensure patient safety by avoiding cross-contamination, such as endophthalmitis.
Tolosa-Hunt Syndrome (THS) is a rare, idiopathic inflammatory disorder characterized by painful ophthalmoplegia due to inflammation within the cavernous sinus or superior orbital fissure. First described by Tolosa in 1954 and later refined by Hunt in 1961, the syndrome is now classified as a headache disorder by the International Classification of Headache Disorders (ICHD-3). The hallmark features include severe periorbital pain accompanied by cranial nerve palsies.
For foundation doctors stepping into the fast-paced environment of the emergency department (ED), ophthalmology can feel like uncharted territory. Training often provides limited hands-on exposure to eye care, and the combination of diverse presentations and specialised tools can make these cases seem intimidating. However, with a systematic approach and a focus on key skills, managing ophthalmic cases in the ED becomes more approachable. This guide offers practical strategies to help foundation doctors build confidence and provide effective care for patients with eye-related complaints.
The mucopolysaccharidoses (MPS) are a rare group of lysosomal storage disorders, each characterised by deficiency in a specific lysosomal enzyme responsible for glycosaminoglycan (GAG) degradation. Pathological accumulation of GAGs occurs in multiple organ systems, including the eye, leading to a broad range of clinical features. Despite MPS being uncommon overall, ocular involvement is relatively frequent within this group of disorders and can significantly compromise vision. This article provides a concise overview of the key ophthalmic manifestations of MPS, highlighting anterior and posterior segment changes, diagnosis and management considerations.
Refsum disease, originally termed Heredopathia Atactica Polyneuritiformis, is a metabolic disorder characterised by the accumulation of phytanic acid in blood and tissues. Originally described in 1946, its four hallmark findings were: retinitis pigmentosa (RP), peripheral neuropathy, cerebellar ataxia and elevated protein content in the cerebrospinal fluid. Most cases result from variants in the PHYH gene, encoding phytanoyl-CoA hydroxylase, the enzyme responsible for the first step in phytanic acid alpha-oxidation; some cases are also attributed to variants in the PEX7 gene which is involved in transporting this enzyme into peroxisomes.
The Introduction to Ophthalmic Surgery Course is designed and organised by the Royal College of Ophthalmologists. The course is aimed at individuals considering application to ophthalmology specialty training. The aim of the course is to provide an opportunity to learn and practice the fundamental microsurgical skills of ophthalmic surgery such as scleral and rectus muscle suturing, eyelid suturing, corneal suturing and corneal incision. Prior to attending the course, e-learning modules must be completed which introduce the different microsurgical instruments, suturing techniques and the use of the microscope.
Leber’s Hereditary Optic Neuropathy (LHON) is a maternally inherited mitochondrial disorder characterised by acute or subacute bilateral vision loss. This condition primarily affects young males and results from mutations in mitochondrial DNA (mtDNA). The pathophysiology involves degeneration of retinal ganglion cells (RGCs) and optic nerve fibres, leading to central vision impairment. This review discusses the clinical presentation, genetic basis, diagnostic criteria, and current therapeutic approaches for LHON.