Rare eye diseases: how a second opinion saved our Founder's sight

After more than thirty years working professionally on treatments for rare diseases, one of our Founders, Julie Matthews, was recently diagnosed with a rare eye disease herself: Salzmann Nodular Degeneration, or SND.

It began as a rapid and significant decline in Julie's eyesight, particularly her close vision. What became clear is that opticians, and even clinical ophthalmologists, may often be unaware of this and other rare eye diseases — or simply not actively looking for them.

The first consultant ophthalmologist Julie saw was sympathetic, but after a slit-lamp examination said her cornea was 'just distorted' and that nothing could be done.

Julie and Mike decided to get a second opinion, this time from a corneal specialist. Mr Thomas Poole BSc MBBS FRCOphth, of Frimley Park Hospital, repeated the slit-lamp examination and immediately diagnosed SND. 'I can help you,' he said. Four wonderful words — and soon afterwards a relatively simple surgical procedure corrected the problem.

SND is chronic and disabling but not fatal, which is part of why it goes unrecognised: conditions that do not kill people, and that have no widely known treatment, drop down the list of things a busy high-street practice thinks to look for. That is exactly the kind of gap Duet exists to close.

Raising awareness of SND and other rare eye diseases is therefore one of Duet's key missions. We will support educational meetings for local opticians and ophthalmologists, spearheaded by our corneal expert and his colleagues, and gather data on how common these conditions really are so that diagnosis and treatment can happen faster.

Reference: Paranjpe V, Galor A, Monsalve P, Dubovy SR, Karp CL. Salzmann nodular degeneration: prevalence, impact, and management strategies. Clin Ophthalmol. 2019;13:1305–1314.