[Ocular manifestations and genetic aspects of Ehlers-Danlos syndrome]

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of inherited connective tissue diseases characterized by abnormal collagen synthesis and affecting various organs, including the eyes. This review analyses the current data on this disease, focusing on EDS types associated with ophthalmological manifestations: brittle cornea syndrome, kyphoscoliotic, musculocontractural, spondylodysplastic, dermatosparaxis, vascular, and classical types. The article describes ophthalmological diagnostic criteria for the different types of EDS and lists other possible ocular symptoms. The review also emphasizes the need for molecular genetic testing for accurate diagnosis in view of the difficulty in identifying specific genes encoding collagen or collagen interacting proteins, highlights the importance of timely treatment and describes methods of correcting visual disturbances, which are important for preventing severe complications such as globe rupture and retinal detachment.