OPTIC DISC DRUSEN MIMICKING PAPILLEDEMA IN AN INFANT WITH JOUBERT SYNDROME

Yilmaz S., Biler E. D., Solmaz A. E., Serdaroglu G., Tekin H. G., Gokben S.

GENETIC COUNSELING, vol.26, no.1, pp.35-39, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 26 Issue: 1
  • Publication Date: 2015
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.35-39
  • Keywords: Infant, Joubert syndrome, Optic disc drusen, Pseudopapilledema, FEATURES
  • Dokuz Eylül University Affiliated: No

Abstract

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.