title: Optic disc drusen mimicking papilledema in an infant with Joubert syndrome.
abstract: 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.
authors.forename: S
authors.initials: S
authors.lastname: Yilmaz
authors.forename: E Demirkilinc
authors.initials: ED
authors.lastname: Biler
authors.forename: A Ece
authors.initials: AE
authors.lastname: Solmaz
authors.forename: G
authors.initials: G
authors.lastname: Serdaroglu
authors.forename: H Gazeteci
authors.initials: HG
authors.lastname: Tekin
authors.forename: S
authors.initials: S
authors.lastname: Gokben
mesh_terms: D000015:Abnormalities, Multiple; D002526:Cerebellar Diseases / Q000150:complications*; D002531:Cerebellum / Q000002:abnormalities; D005124:Eye Abnormalities / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D052177:Kidney Diseases, Cystic / Q000150:complications*; D015594:Optic Disk Drusen / Q000175:diagnosis / Q000209:etiology*; D010211:Papilledema / Q000175:diagnosis; D012160:Retina / Q000002:abnormalities*