Natural history and biomarkers of KCNV2-associated retinopathy.

Dhimas Hari Sakti Elisa Eleanor CornishHaipha AliStephanie RetsasMarium RazaNonna SaakovaLivia S Carvalho Benjamin M Nash Robyn V Jamieson John R B Grigg

Published in: Clinical & experimental ophthalmology (2024)

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.

Keyphrases

optical coherence tomography
electronic health record
big data
current status
data analysis
deep learning
functional connectivity