Case Reports
Shedding light on Wolfram syndrome: The unveiling of a delayed diagnosis
Wolfram syndrome 1 (WS1) was first described by Wolfram and Wagener in 1938 and it’s a rare neurodegenerative, progressive disorder, also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) [1]. We present an atypical case of WS...
Progressive myelination of the retinal nerve fibre layer: Acquired or incidental?
*Co-first authors.Myelinated retinal nerve fibres are retinal nerve fibres encased by a myelin sheath, located anterior to the lamina cribrosa [1]. First described by Virchow in 1856, a myelinated retinal nerve fibre layer (RNFL) appears as a whitish, feathery patch...
Melkersson-Rosenthal syndrome
Melkersson-Rosenthal syndrome (MRS) is a rare neuro-mucocutaneous disorder which is defined by a triad of orofacial oedema, furrowing of the tongue, and recurrent episodes of facial nerve palsy [1]. Due to the rarity of the disease and inconsistent presentation, MRS...
Bosch-Boonstro-Schaaff optic atrophy syndrome (BBSOAS) NR2F1 mutation
An experienced ophthalmologist can make an anatomical diagnosis of childhood visual impairment based upon the surgical sieve, i.e., congenital and acquired. But an ophthalmologist cannot work in isolation to make an aetiological diagnosis – one would require the help of...
Unilateral central scotoma following dengue fever
Case report A 16-year-old Caucasian male was referred to the eye casualty at Nottingham University Hospitals NHS Trust by the infectious diseases unit in September 2013. He gave a history of photophobia, pain on eye movements and central blurred vision...
Oculogyric crisis with B12 deficiency
An oculogyric crisis (OGC) is a dystonic movement disorder of the eyes which can last from seconds to hours. Although there is no published diagnostic criteria for OGC, typically the onset is acute, and it is characterised by conjugate upward...
A case of Miller Fisher Syndrome and bilateral asymmetric globe retraction
Miller Fisher syndrome (MFS) is a rare, acquired nerve disease that is considered to be a variant of Guillain-Barré syndrome. It was first recognised by James Collier in 1932 as a clinical triad of ataxia, areflexia and ophthalmoplegia. Later, it...
An unusual presentation of sarcoidosis
*Equally contributing co-first authors. Case report A 45-year-old man presented to his local optometrist with a three-week history of severe intermittent left eye pain with associated blurred vision and tenderness around his left temple. Two days prior, he developed weakness...
Is this a retinal detachment?
Despite the help of allied health professionals in triaging and managing acute ophthalmic emergencies, eye casualty remains overburdened. Trainees at the beginning of their training often struggle to manage such busy clinics with varied presentations. We present a case that...
Fundus photography in Malawi – setting up a screening programmefor diabetic retinopathy
We present the case of a 53-year-old lady who presented to the diabetes outpatient clinic at Kamuzu Central Hospital (KCH), Lilongwe, Malawi. She was diagnosed with type 2 diabetes mellitus six years ago, for which she takes metformin orally. She...
Systemic sarcoidosis presenting with acute myopia and angle closure
Case report A 40-year-old Asian man presented to the Emergency Department with a one day history of sudden onset visual disturbance in his right eye. He complained of image distortion and noted that objects now appeared smaller. He also described...
Cyanoacrylate nail glue accidentally instilled into the eye instead of eye drops
Three hundred thousand cataract operations take place each year in the UK alone and each patient will receive a four week course of drops in order to cover them for any postoperative inflammation or infection. Accidental instillation of cyanoacrylate glue...
