Optic disc drusen mimicking papilledema in an infant with Joubert syndrome
Articles > Article · 2015
Authors: Sanem KESKİN YILMAZ, E. Demirkilinc Biler, Aslı ECE SOLMAZ, G. Serdaroglu, H. Gazeteci Tekin, S. Gokben
Genetic Counseling, Journal Indexed in SCI Expanded, International, Scopus, 2015, vol 26, pp 35-39
Summary
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.