Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors.
Fiche publication
Date publication
septembre 2020
Journal
Investigative ophthalmology & visual science
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence, Dr BOUCHOT André, Pr THAUVIN-ROBINET Christel
Tous les auteurs :
Lhussiez V, Dubus E, Cesar Q, Acar N, Nandrot EF, Simonutti M, Audo I, Lizé E, Nguyen S, Geissler A, Bouchot A, Ansar M, Picaud S, Thauvin-Robinet C, Olivier-Faivre L, Duplomb L, Da Costa R
Lien Pubmed
Résumé
Cohen syndrome (CS) is a rare genetic disorder caused by variants of the VPS13B gene. CS patients are affected with a severe form of retinal dystrophy, and in several cases cataracts also develop. The purpose of this study was to investigate the mechanisms and risk factors for cataract in CS, as well as to report on cataract surgeries in CS patients.
Référence
Invest. Ophthalmol. Vis. Sci.. 2020 Sep 1;61(11):18