Kirk Stephenson

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Inherited retinopathies affect approximately two and a half million people globally, yet the majority of affected patients lack clear genetic diagnoses given the diverse range of genes and mutations implicated in these conditions. We present results from a next-generation sequencing study of a large inherited retinal disease patient population, with the(More)
Program Number: 6585 Poster Board Number: D0356 Presentation Time: 11:00 AM–12:45 PM Novel RS1 Mutation in an Irish X-Linked Retinoschisis Cohort Kirk Stephenson1, Matthew Carrigan2, Paul Kenna3, 2, G Jane Farrar2, David Keegan1. 1Ophthalmology, Mater Misericordiae University Hospital, Dublin, Ireland; 2Trinity College Dublin, Dublin, Ireland;(More)
While pyoderma gangrenosum (PG) most commonly affects the skin it can also involve other organs. It rarely affects the eye, orbit, or adnexa. Its early recognition and proper management with prompt initiation of immunosuppressive therapy are essential for the preservation of the eye and, in turn, vision, in these cases. Here, we review the limited(More)
Two siblings, an 11-year-old boy and a 7-year-old girl presented with bilateral symmetrical ptosis and limited eye movements. Having already been reviewed on a number of occasions by a variety of specialists in multiple hospital settings a diagnosis of their ocular motility disorder had remained elusive. We describe their cases, outline the differential(More)
There are an estimated 5000 people in Ireland who currently have an inherited retinal degeneration (IRD). It is the goal of this study, through genetic diagnosis, to better enable these 5000 individuals to obtain a clearer understanding of their condition and improved access to potentially applicable therapies. Here we show the current findings of a target(More)
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