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)
These abstracts are licensed under a Creative Commons Attribution-NonCommercial-No Derivatives 4.0 International License. Go to to access the versions of record. Purpose: To describe the phenotype and genotype of a family cohort (observational study, n=6) of X-linked retinoschisis in an Irish population with a novel RS1(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)
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