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Postihnutie oka pri vrodených chorobách spojiva

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RYBÁROVÁ Natália BAKOŠOVÁ M.

Rok publikování 2014
Druh Článek v odborném periodiku
Časopis / Zdroj Slovenský lekár
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
Obor ORL, oftalmologie, stomatologie
Klíčová slova heritable connective tissue diseases; ocular involvment
Popis 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.

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