Refsum Disease: An Overview

  • Reading time:9 mins read
  • Post author:Haseeb N. Akhtar, Ayesha Salejee, Hassan A. Mirza
  • Post category:Article

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.

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Introduction to Ophthalmic Surgery Course: My Experience

  • Reading time:3 mins read
  • Post author:Simeon Harrow
  • Post category:Article

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.

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Leber’s Hereditary Optic Neuropathy: An Overview and Future Therapeutics

  • Reading time:9 mins read
  • Post author:Sadat Yazdouni
  • Post category:Article

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.

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Progressive Myopia: Epidemiology, Aetiology, and Management Strategies

  • Reading time:10 mins read
  • Post author:Sadat Yazdouni
  • Post category:Article

Progressive myopia, a growing public health concern, is characterised by the continuous elongation of the eye, resulting in increasing myopic refractive error. This condition is associated with an elevated risk of vision-threatening complications, including retinal detachment, glaucoma, and myopic maculopathy. This article explores the epidemiology, underlying mechanisms, and current approaches to managing progressive myopia, emphasising the need for early intervention and the role of innovative treatments.

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Promising Developments in Curing Blindness

  • Reading time:10 mins read
  • Post author:Sadat Yazdouni
  • Post category:Article

Blindness, a debilitating condition affecting millions of people globally, has seen substantial advancements in potential cures in recent years. Ground-breaking research in gene therapy, stem cell treatments, bionic eyes, and artificial intelligence is paving the way for restoring vision. Below, we explore the scientific principles underlying each of these emerging therapies, including their current progress and potential timelines for clinical application in humans.

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Gamification in Ophthalmic Education: Current Practices, Challenges, and Future Directions

  • Reading time:13 mins read
  • Post author:Parvesh Konda, Kawtar Bihmane
  • Post category:Article

Game design has been increasingly incorporated into medical education based on principles of increasing engagement and motivation for learning. There is strong evidence that gamification and simulation can improve performance in motor-skill-based tasks and mixed evidence on the effects on short-term and long-term knowledge retention. Ophthalmology is a speciality which combines theoretical knowledge and technical proficiency so it provides an excellent atmosphere for the testing of game-based medical education methods. A search was performed for studies that used gamification in ophthalmology education. The search was purposefully kept broad due to the relative scarcity of studies on this topic and the exploratory nature of the review. This review assesses the different gamification methods in ophthalmology education and appraises their strengths and limitations, offering potential methods for future gamification studies to adopt. Simulators such as the Eyesi have many components of game theory in their development and provide tangible and translatable benefits to clinical practice. These improvements must be weighed against cost-benefit analyses in future studies. Further studies on gamified teaching should assess the short-term and long-term retention impact, and effects of knowledge, skills and behaviours versus a control group.

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Herpes Zoster Ophthalmicus: Disease Overview

  • Reading time:5 mins read
  • Post author:Aaruran Nadarajasundaram
  • Post category:Article

Herpes Zoster Ophthalmicus (HZO) is a manifestation of shingles involving the ophthalmic division of the trigeminal nerve. It results from the reactivation of the varicella-zoster virus (VZV), which remains dormant in sensory ganglia following primary infection. It’s a condition with growing burden as in the United Kingdom, the incidence of herpes zoster is estimated at 1 in 4 will develop herpes zoster during their lifetime, with HZO accounts for approximately 10–20% of all herpes zoster cases. Approximately two-thirds of HZO cases occur in individuals over 50 years old.

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An Overview of KCNV2 Retinopathy and Potential Future Therapeutics

  • Reading time:8 mins read
  • Post author:Sadat Yazdouni
  • Post category:Article

KCNV2 retinopathy, also known as cone dystrophy with supernormal rod response (CDSRR), is a rare autosomal recessive retinal disorder resulting from mutations in the KCNV2 gene. This condition is characterised by distinct electroretinographic (ERG) findings, progressive photoreceptor degeneration, and significant visual impairment. This review aims to provide a detailed analysis of the pathophysiology, epidemiology, clinical features, diagnostic approaches, and emerging therapeutic options for KCNV2 retinopathy.

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Foster Kennedy Syndrome

  • Reading time:5 mins read
  • Post author:Maarij Mirza
  • Post category:Article

Foster Kennedy Syndrome (FKS), named after neurologist Robert Foster Kennedy (1884-1952), is a rarely reported phenomenon resulting in painless progressive loss of vision that is seen within neuro-ophthalmology. It is characterised by visual loss and optic atrophy in one eye and papilledema in the opposite eye due to a space occupying lesion intracranially. It presents sporadically with less than 1% of people with intracranial tumours affected.

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Periorbital Cellulitis: Overview

  • Reading time:5 mins read
  • Post author:Simeon Harrow
  • Post category:Article

Periorbital cellulitis is an infection affecting the eyelid and the surrounding area of the eye, anterior to the orbital septum. Periorbital cellulitis presents very similarly to orbital cellulitis, which is an infection affecting the eye and deeper tissues posterior to the orbital septum. Periorbital cellulitis typically results from the spread of infection following sinusitis or local trauma to the skin around the eye causing infection; from an insect bite or scratch. Orbital cellulitis is often due to the progression of periorbital cellulitis or trauma to the eyeball.

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