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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...

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...

A case of retinal cavernous haemangioma – don’t let it slip through the grapevine

We present a case of a seven-year-old male who presented to the emergency eye referral clinic with red eye. He was diagnosed and treated for allergic conjunctivitis, however, on clinic review, wide field retinal imaging was performed (as has been...

Feb/Mar 2018 Quiz

History A 48-year-old farmer with gradual worsening vision in her only eye was referred by her optician. She had recently moved to the UK and required an interpreter during consultation. She seemed to have had vision problems since childhood. Although...

Understanding vasoproliferative retinal tumours

Syed Irtiza Ali Shah explores this rare and unusual condition through a fascinating case presentation. Vasoproliferative tumours of the retina (VPTR) are a vascular mass with an associated exudative retinopathy alongside the presence of minimally dilated feeder vessels. This is...