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Usher syndrome patient reported outcomes
The authors present a systematic review of the literature on patient-reported outcomes in Usher syndrome; a leading cause of deaf-blindness. A total of 27 studies were included, and there was a strong bias towards studies from the US and Europe...
Orbital airgun pellet injuries: A paediatric case pair
Airgun injuries to the eye and orbit can be visually devastating. The pellet need not impact the globe directly to cause visual loss, as the cone shaped orbit may funnel the projectile into the orbital apex and optic nerve. We...
Reproductive counselling for females with X-linked inherited retinal diseases
The authors report a survey-based study of 118 female patients who were genetically confirmed carriers or obligate carriers of an X-linked inherited retinal disease. The majority (66.9%) of these patients were carriers of choroideremia; other diagnoses included retinitis pigmentosa, X-linked...
