par Boothman, Isabelle;Clayton, Lisa M S;McCormack, Mark;Driscoll, Alexandra McKibben;Stevelink, Remi;Moloney, Patrick;Krause, Roland;Kunz, Wolfram W.S.;Diehl, Sarah;O'Brien, Terence;Sills, Graeme;de Haan, Gerrit Jan;Zara, Federico;Koeleman, B.P.C.;Depondt, Chantal ;Marson, Anthony Guy;Stefansson, Hreinn;Stefansson, Kari;Craig, John;Johnson, Michael R;Striano, Pasquale;Lerche, Holger;Furney, Simon;Delanty, Norman;Consortium EpiPGX, Sanjay M;Sisodiya, Gianpiero L;Cavalleri,
Référence Frontiers in Neuroscience, 17, page (1156362)
Publication Publié, 2023-11-01
Référence Frontiers in Neuroscience, 17, page (1156362)
Publication Publié, 2023-11-01
Article révisé par les pairs
Résumé : | The anti-seizure medication vigabatrin (VGB) is effective for controlling seizures, especially infantile spasms. However, use is limited by VGB-associated visual field loss (VAVFL). The mechanisms by which VGB causes VAVFL remains unknown. Average peripapillary retinal nerve fibre layer (ppRNFL) thickness correlates with the degree of visual field loss (measured by mean radial degrees). Duration of VGB exposure, maximum daily VGB dose, and male sex are associated with ppRNFL thinning. Here we test the hypothesis that common genetic variation is a predictor of ppRNFL thinning in VGB exposed individuals. Identifying pharmacogenomic predictors of ppRNFL thinning in VGB exposed individuals could potentially enable safe prescribing of VGB and broader use of a highly effective drug. |