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Breakthroughs in the genetics of angle-closure glaucoma
Angle closure glaucoma (ACG) is not widely known to be a familial condition, yet the recent explosion of genetic data and large scale genome wide investigations have confirmed at least 13 genetic loci associated with ACG [1], and provided some...Insights from the ‘Rb-NET Challenges’ Session: Evolving approaches in global retinoblastoma management
The Retinoblastoma Network (Rb-NET) Multidisciplinary Team (MDT) platform, developed by the London School of Hygiene & Tropical Medicine (LSHTM) and Professor Ido Didi Fabian, is a web-based telemedicine initiative that regularly hosts virtual MDT meetings focused on the evaluation and...Oct/Nov 2017 Quiz
History A 73-year-old man presented with a rapidly growing left lower eyelid lump with recent bleeding. On examination there was a raised, ulcerated, firm mass occupying two thirds of his lower eyelid. The lesion bled easily and appeared connected to...A missed opportunity
Back in 2000 Sir Liam Donaldson wrote a piece of work commissioned by the then Secretary of State for Health entitled “An Organisation with a Memory”. We are now 18 years on and still some of the recommendations from them...Idiopathic intracranial hypertension (IIH)
IIH is a medical condition where the intracranial pressure (ICP) is raised without an obvious cause. The cerebrospinal fluid (CSF) is produced in by the choroid plexus in the lateral ventricles and the roof of the third and fourth ventricles,...RNIB welcomes new magnifier coming to a Google Pixel smartphone
RNIB welcomes new magnifier in-your-pocket-feature coming to a Google Pixel smartphone near you.Applanation tonometry in the pandemic era: Are facial masks an obstacle to a correct intraocular pressure measurement?
Current recommendations in the UK advise on wearing any facial covering to prevent the spread of the coronavirus [1]. Whilst this is vital for patient and hospital staff safety, it has led to several changes in the approach to a...Neurofibromatosis type 2 – diagnosis, features and MDT approach
NF2 is a genetic condition caused by mutation in a single gene (NF2 gene) on chromosome 22. The NF2 gene provides instructions to produce a protein called merlin, also known as schwannomin. This protein functions as a tumour suppressor, preventing...
OCT choroidal signs for congenital retinal pigment epithelium hypertrophy
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) on ocular coherence tomography (OCT) has the characteristic sign of RPE thickening and hyper reflectivity. However, the underlying choroid characteristics remain under researched. This retrospective study utilised data from an ophthalmic oncology...
Visual prognosis in Irish Leber’s hereditary optic neuropathy
Leber’s hereditary optic neuropathy (LHON) is an inherited optic neuropathy This paper presents a retrospective review of clinical data from patients with LHON presenting to an Irish tertiary referral ophthalmic hospital. Clinical and genetic characteristics were assessed for useful biomarkers...
