Ehlers-Danlos syndromes and their manifestations in the visual system
Samuel Asanad, May Bayomi, Douglas Brown, Joshua Buzzard, Eric W. Lai, Carlthan Ling, Trisha Miglani, Taariq Mohammed, Joby Tsai, Olivia Uddin, Eric L. Singman
Abstract
Ehlers-Danlos syndrome (EDS) is a rare, genetically variable, heterogenous group of (currently recognized) thirteen connective tissue disorders characterized by skin hyperextensibility, tissue fragility, and generalized joint hypermobility. In addition to these commonly recognized phenotypes, recent studies have notably highlighted variable ophthalmic features in EDS. In this review, we comprehensively gather and discuss the ocular manifestations of EDS and its thirteen subtypes in the clinical setting.
Topics & Concepts
Joint hypermobilityEhlers–Danlos syndromeDermatologyConnective tissueMedicinePathologyAnatomyConnective tissue disorders researchDermatological and Skeletal DisordersProtein Tyrosine Phosphatases