Elisa Cornish

Background KCNV2 ‐associated retinopathy is an autosomal recessive inherited retinal disease classically named cone dystrophy with supernormal rod response (CDSRR). This study aims to identify the best biomarker for evaluating the condition. Methods A retrospective review of eight patients from seven families with genetically confirmed KCNV2 ‐associated retinopathy was performed. The best corrected visual acuity (BCVA), full‐field electroretinogram (ffERG), pattern ERG (pERG), fundus imaging: retinal photograph and fundus autofluorescence (FAF), and optical coherence tomography (OCT) were analysed. Results There was a disproportionate increase in b‐wave amplitude with a relatively small light intensity increase, especially between the two dimmest stimuli of DA 0.002 and 0.01 (−2.7 and −2.0 log cd.s/m 2 ). The a‐wave amplitude was normal. The a‐wave peak time was delayed in all stimuli. The b‐wave peak time was delayed compared to normal, but the gap tightened as intensity increased. The b:a wave ratio was above or at the upper limit for the reference values. FAF bull's eye maculopathy pattern was prominent and variable foveal disruption on OCT was apparent in all patients. Legal blindness was reached before the age of 25. Conclusions We identified three potential electrophysiology biomarkers to assist in evaluating future therapies: the disproportionate b‐wave amplitude jump, delayed a‐wave and b‐wave peak time, and the higher than normal b:a wave ratio. Any of these biomarkers found with photoreceptor ellipsoid zone foveal‐perifoveal disruption should prompt consideration for KCNV2 retinopathy. The BCVA natural history data suggests the probable optimum therapeutic window in the first three decades of life.

Background Central retinal vein occlusion and branch retinal vein occlusion are common causes of visual loss due to associated macular oedema. The aim of this review was to assess the effectiveness of interventions improving vision and treating macular oedema in central retinal vein occlusion and branch retinal vein occlusion. Methods Medical search engines and clinical trial registries were systematically searched. Randomised clinical trials with ≥90 eyes and real‐world outcome studies with ≥100 eyes each with ≥6 months follow‐up were included. Results There were 11 randomised controlled trials evaluating treatments for central retinal vein occlusion which met the inclusion criteria and 10 for branch retinal vein occlusion. There were 10 real world outcome studies of central retinal vein occlusion and 5 real world outcome studies of branch retinal vein occlusion. Meta‐analysis was performed on studies that met the defined inclusion criteria. Main outcomes were change in visual acuity at 6‐, 12‐, 24‐ and 36 months by treatment. Conclusions Intravitreal anti‐vascular endothelial derived growth factor is recommended as first line treatment over intravitreal corticosteroid due to its effectiveness and lower rate of ocular adverse events. Best outcomes are achieved when intravitreal treatment is started early. Macular laser may have an adjunctive role in branch retina vein occlusion but not central retinal vein occlusion.