Ophthalmologic findings in a case of Sjögren-Larsson syndrome Sjögren-Larsson sendromu ve bir olgumuzda göz muayene bulgulari

Demir S., Beden Ü., Özarslan M., Erkan D.

Retina-Vitreus, cilt.17, sa.1, ss.65-68, 2009 (Scopus, TRDizin) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 17 Sayı: 1
  • Basım Tarihi: 2009
  • Dergi Adı: Retina-Vitreus
  • Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.65-68
  • Anahtar Kelimeler: Crystalline retinopathy, Ichthyosis, Mental retardation, Sjögren-Larsson syndrome
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

Sjögren-Larsson syndrome (SLS) is a recessively inherited disorder characterized by congenital icthyosis, spastic diplegia and mental retardation. The disorder is caused by mutations in the aldehyde dehydrogenase family 3, subfamily A2 gene on 17th cromosome. Patients exibit highly charecteristic bilateral, glistening yellow-white retinal dots from the age of 1 to 2 years onward. We report on ophthalmological features of SLS in our 9 years old female patient.