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, vol.17, no.1, pp.65-68, 2009 (Scopus) identifier

  • Publication Type: Article / Article
  • Volume: 17 Issue: 1
  • Publication Date: 2009
  • Journal Name: Retina-Vitreus
  • Journal Indexes: Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.65-68
  • Keywords: Crystalline retinopathy, Ichthyosis, Mental retardation, Sjögren-Larsson syndrome
  • Ondokuz Mayıs University Affiliated: Yes

Abstract

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.