Zmiany w narządzie wzroku u dzieci z nerwiakowłókniakowatością typu 1.
Ocular Changes in Children with Type 1 Neurofibromatosis
Anna Niwald, Anna Koszek-Pasińska, Ewa Lipiec, Małgorzata Budzińska-Mikurenda, Agnieszka Moll
Klinika Okulistyki Dziecięcej Katedry Pediatrii Zabiegowej Uniwersytetu Medycznego w Łodzi
Samodzielny Publiczny Zespół Opieki Zdrowotnej Uniwersyteckiego Szpitala Klinicznego Nr 4 Uniwersytetu Medycznego w Łodzi
Kierownik: dr hab. n. med. Anna Niwald
Summary: Introduction: Neurofibromatosis type 1 (NF1) is one of the most common phacomatoses. Its clinical presentation is multi-organ and variable. The main ocular manifestations of NF1 are iris hamartomas, optic nerve gliomas, neurofibromas involving the upper lid and orbit, retina and uvea hamartomas.
Aim: The aim of this study was to evaluate the abnormalities in the visual organ in children affected with NF1 in our own observation.
Material and Methods: 12 children with diagnosed NF1 participated in this study in the age ranging between 2 and 18 years. Full ophthalmologic examination was performed including visual acuity, refraction error, slit lamp and fundus testing, intraocular pressure, eyes alignment. All the children underwent pattern VEP examination.
Results: The mean visual acuity was 0.8, the mean refractive error was +1.00 Dsph in the studied group. In half of the patients examination revealed typical changes for the NF1 tumors concerning visual organ. 4 (33.3%) of them were gliomas of the optic pathway. There were 2 (16%) children with the neurofibromas of the upper eyelids, in whom one child was with the additional orbit tumor (neurofibroma) causing exophthalmus. Slit lamp examination demonstrated Lisch nodules in 8 subjects (66.6%). Moreover in 5 children neuroimaging showed other than gliomas abnormalities of the central nervous system. The analysis of pattern VEP testing results were abnormal, especially in the patients affected with gliomas of the optic pathway.
Conclusions: Ocular changes in children with NF1 are of typical clinical picture and occur with the patients' age. VEP evaluation could be one of the earliest detection methods of the malformations in the optic pathway. Children with NF1 require multi-specialistic medical care including ophthalmologic examination on a regular basis because of the dynamic course of this disease.
Słowa kluczowe: dzieci, nerwiakowłókniakowatość typu 1., guzki Lischa, glejaki nerwu wzrokowego.
Keywords: children, neurofibromatosis type 1, Lisch nodules, optic nerve gliomas.