OPTIC DISC DRUSEN MIMICKING PAPILLEDEMA IN AN INFANT WITH JOUBERT SYNDROME
Makaleler > Tam Makale · 2015
Yazarlar: Sanem KESKİN YILMAZ, Elif DEMİRKILINÇ, Aslı ECE SOLMAZ, GÜL AKTAN, HANDE GAZETECİ TEKİN, SARENUR GÖKBEN
GENETIC COUNSELING, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2015, cilt 26, ss 35-39
Özet
Optic disc drusen mimicking papilledema in an infant with Joubert syndrome: Joubert Syndrome is a rare autosomal recessive disorder characterized by absence or underdevelopment of the cerebellar vermis. Various ocular and oculomotor findings are frequently seen in cases with Joubert Syndrome. However, only three adolescent patients with Joubert Syndrome were diagnosed with optic disc drusen. Here we present an infant case of Joubert Syndrome referred with papilledema and diagnosed with optic disc drusen.