Publication details
Postihnutie oka pri vrodených chorobách spojiva
| Title in English | Ocular involvement in patients with heritable connective tissue diseases |
|---|---|
| Authors | |
| Year of publication | 2014 |
| Type | Article in Periodical |
| Magazine / Source | Slovenský lekár |
| MU Faculty or unit | |
| Citation | |
| Field | ORL, ophthalmology, stomatology |
| Keywords | heritable connective tissue diseases; ocular involvment |
| Description | Heritable connective tissue diseases are the group of diseases which is characterized by abnormal quality or quantity of collagen, following certain genetic mutations in individual locations which cause special symptoms. Marfan syndrome, Ehlers-Danlos syndrome, osteogenesis imperfecta, Stickler syndrome and benign hypermobility syndrome are the most frequent ones that exhibit signs and symptoms not only in the musculoskeletal system but also in the cardiovascular system and the eyes. Ocular involvement in this group of diseases is most frequently present in patients with the vascular and kyphoscoliotic type of Ehlers-Danlose syndrome with thinning of the bulbar wall and risk of spontaneous bulbar perforation and in Stickler syndrome patients with the risk of retinal detachment. The diagnosis of these diseases should involve an ophthalmologist and other specialists. |