Latest Contribution
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...
Ethnic disparities in diagnostic sequencing yield
The authors present a systematic review and meta-analysis of the diagnostic yield of next generation sequencing (NGS) for inherited retinal diseases and compare yield from studies performed primarily on patients of European descent from those primarily of East Asian descent....
