You searched for "rare"
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...
Keratolimbal allograft and tumour transmission
This case report describes tumour transmission from keratolimbal allograft donor to recipient. A 68-year-old woman underwent keratolimbal allograft (KLAL) for limbal stem cell failure from a donor, who died of invasive breast carcinoma that had metastasised to multiple levels of...
Periocular sweat gland carcinomas
This is an interesting review of a rare group of tumours which together comprise the adnexal sweat gland carcinomas. Although there are only 22 patients, this is the largest cohort ever published. The authors summarise the clinical presentation, stage, management...
ARN in North Africa
Acute retinal necrosis (ARN) is a rare cause of uveitis. This paper aims to outline the clinical features of 12 patients with ARN in a referral centre in Tunisia, North Africa. A retrospective review of case notes was carried out....
A review of orbital plasmacytomas
This is a multicentre review of 30 patients with orbital plasmacytomas. There were equal numbers of males and females, and the average age at diagnosis was 57 years. All patients were either already diagnosed with systemic multiple myeloma or it...
Cavernous sinus thrombosis and orbital cellulitis
This is a report of six cases of combined orbital cellulitis and infective cavernous sinus thrombosis, with a literature review. The average age was 39 years, four were male and two were intravenous drug users. All had sinusitis, usually involving...
Corneal crosslinking in pellucid marginal degeneration
Fourteen studies were included in this first review examining the use of corneal-crosslinking (CXL) to treat pellucid marginal degeneration (PMD). PMD is a bilateral, non-inflammatory corneal thinning disorder characterised by inferior peripheral corneal thinning 1-3mm from the limbus in the...
Silicone oil migration presenting as an eyelid cyst
The author presents a single case report of a rare complication of silicone oil tamponade, silicone oil migration, after pars plana vitrectomy. A seven-year-old female, with a history of vitrectomy one year prior for penetrating eye trauma, presented with a...
Unique case of steroid-induced intraocular pressure spike causing NAION
The literature describes previous cases of nonarteritic anterior ischaemic optic neuropathy (NAION) following rapid rises in intraocular pressure (IOP) leading to reduced optic nerve head perfusion and disruption. This is commonly following ophthalmic procedures, acute glaucoma or steroid eye drops....
PRPF31-related retinitis pigmentosa and asymptomatic carriers
The authors present a study of 21 patients with variants in the PRPF31 gene classified as pathogenic or likely pathogenic. These variants are caused by autosomal dominant retinitis pigmentosa (RP-11). Between January 2020 and November 2021 patients underwent tests of...
Referral patterns and pathways for intracranial hypertension
The authors present a retrospective case review of individuals with suspected raised intracranial pressure (ICP) over a 12-month period a single tertiary neuro-ophthalmology centre. Cases were categorised into four groups based on examination by neuro-ophthalmology; 1) referred after identification of...
