Ocular manifestations in Koolen-de Vries syndrome: an international study.
Fiche publication
Date publication
décembre 2023
Journal
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
Auteurs
Membres identifiés du Cancéropôle Est :
Pr MANDEL Jean-Louis
Tous les auteurs :
Shalev D, Koolen DA, de Vries BBA, Meirovitch SB, Mandel JL, Burger P, Rosenfeld A, Simon GJB, Prat DL
Lien Pubmed
Résumé
Koolen-de Vries Syndrome (KdVS) is a rare multisystem neurodevelopmental disorder. Ocular manifestations, including strabismus, ptosis, and hyperopia, have been reported in KdVS patients, but detailed clinical data are limited. This study aims to investigate the already known ocular malformations and their frequency while uncovering novel ocular associations.
Référence
Can J Ophthalmol. 2023 12 22;: