An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome

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

OPHTHALMIC GENETICS, cilt.42, sa.3, ss.326-328, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 42 Sayı: 3
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1080/13816810.2021.1888130
  • Dergi Adı: OPHTHALMIC GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.326-328
  • Anahtar Kelimeler: colobomatous cyst, morning glory anomaly, optic disc coloboma, Wolf Hirschhorn syndrome
  • İstanbul Üniversitesi Adresli: Hayır

Özet

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.