title: [Optical coherence tomography in Sjögren-Larsson Syndrome diagnosis].
abstract: OBJECTIVE
  To study the clinical and the optical coherence tomography (OCT) features of crystalline_macular dystrophy in a 14-year-old man with Sjögren-Larsson syndrome (SLS).
  
  
  METHODS
  A 14-year-old man was hospitalized because of a severe hyperkeratosis, epilepsy, spastic paraplegia and mental retardation. The diagnosis of SLS was considered. A bilateral crystalline maculopathy was detected by fundus ophthalmoscopy. OCT showed bilateral focal perifoveal hyperreflectivities and microcystoid spaces.
  
  
  CONCLUSIONS
  OCT features of the crystalline maculopathy could point at SLS in undiagnosed patients. It is a low cost and non invasive procedure that could be of value in elucidating the pathophysiological mechanisms of SLS.
authors.affiliation: Service d'ophtalmologie CHU La Rabta, Tunis, Tunisie. loukiliness@yahoo.fr
authors.forename: I
authors.initials: I
authors.lastname: Loukil
authors.forename: O
authors.initials: O
authors.lastname: Naija
authors.forename: F
authors.initials: F
authors.lastname: Hachicha
mesh_terms: D000293:Adolescent; D006801:Humans; D008297:Male; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis*; D041623:Tomography, Optical Coherence