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2009, vol. 48, br. 3, str. 38-42
Okularne manifestacije kod neurofibromatoze tip 1
aKlinički centar Niš, Klinika za očne bolesti
bKlinički centar Niš, Centar za radiologiju
cKlinički centar Niš, Klinika za bolesti, uva, grla i nosa

e-adresavesaboy81@hotmail.com
Ključne reči: neurofibromatoza tip 1; okularne manifestacije
Sažetak
Okularna fibromatoza tip 1 je autozomalno dominantna fakomatoza sa varijabilnom ekspresijom i pojavom karakterističnih promena na oku. Najčešći oftalmološki nalaz u oku je pojava karakterističnih nodusa na dužici, ali se kao udruženi nalaz opisuju i neurofibromatoza gornjeg kapka, gliomi vidnog živca, horioidalni hemartomi i kongenitalni glaukom. U radu se daje detaljan prikaz bolesnika sa neurofibromatozom tip 1, sa pojavom karakterističnih kožnih promena, zahvatanjem centralnog nervnog sistema i specifičnim promenama u oku i adneksima. Ukazuje se na značaj detaljnog oftalmološkog pregleda u otkrivanju i prepoznavanju mogućih manifestacija, kao i na kriterijume u okviru kojih se postavlja dijagnoza oftalmoloških oboljenja. Detaljno se govori i o kriterijumima za postavljanje dijagnoze neurofibromatoze tip 1, koji obuhvataju veći broj manifestacija na različitim organima.
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jezik rada: srpski
vrsta rada: prikaz slučaja
objavljen u SCIndeksu: 09.02.2010.

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