Optic nerve involvement in CACNA1F -related disease: observations from a multicentric case series.

Elisa MarzialiFilip Van Den BroeckSara BargiacchiPina FortunatoRoberto CaputoAndrea SodiJulie De ZaeytijdVittoria MurroDario Pasquale MuccioloDario GiorgioIlaria PasseriniViviana PalazzoPeluso FrancescaElfriede De BaereChristina ZeitzBart Peter LeroyJacopo SecciGiacomo M Bacci

Published in: Ophthalmic genetics (2022)

Our data support the hypothesis that CACNA1F could be related to early-onset or congenital optic nerve involvement without any signs of a progressive optic neuropathy. Even though additional data from larger cohorts and longer follow-up periods are needed to further support and confirm our findings, there is a clear significance to our findings in the preparation for future CACNA1F gene therapy trials.

Keyphrases

optic nerve
early onset
gene therapy
optical coherence tomography
late onset
electronic health record
multiple sclerosis
big data
current status
machine learning
data analysis
deep learning