An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome

Celik G., BATU OTO B., Kizilay O., KILIÇARSLAN O., Toptan H. H.

OPHTHALMIC GENETICS, vol.42, no.3, pp.326-328, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 42 Issue: 3
  • Publication Date: 2021
  • Doi Number: 10.1080/13816810.2021.1888130
  • Journal Name: OPHTHALMIC GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, MEDLINE
  • Page Numbers: pp.326-328
  • Keywords: colobomatous cyst, morning glory anomaly, optic disc coloboma, Wolf Hirschhorn syndrome
  • Istanbul University Affiliated: No

Abstract

Purpose: Wolf-Hirschhorn syndrome (WHS) is a rare inherited disease caused by the deletion in short arm of 4(th) chromosome. Various ocular manifestations in WHS have been described previously. We present an extraordinary clinical case of WHS associated with optic nerve head malformation and optic nerve sheath enlargement in the same eye.