title: Subclinical changes in the juvenile crystalline macular dystrophy in Sjögren-Larsson syndrome detected by optical coherence tomography.
abstract: OBJECTIVE
  To study morphologic changes in the macula by optical coherence tomography (OCT) in patients with a crystalline macular dystrophy due to the autosomal recessive neurocutaneous Sjögren-Larsson syndrome (SLS).
  
  
  METHODS
  Retrospective observational case series.
  
  
  METHODS
  Twenty-seven eyes of 14 patients, mean age 14.6 (range, 3-24) years, with biochemically and genetically proven SLS underwent clinical and OCT investigation between September 2004 and September 2006.
  
  
  METHODS
  All patients underwent full ophthalmologic examination including slit-lamp biomicroscopy and binocular ophthalmoscopy. Optical coherence tomography of all eyes was performed using the macular thickness map protocol of Stratus OCT.
  
  
  METHODS
  Macular morphology in clinical examination and OCT.
  
  
  RESULTS
  Beside clinically visible perimacular crystalline deposits in all eyes of all study participants, macular morphology and reflectivity were significantly changed on OCT compared with healthy eyes. We found focal hyperreflectivities in all study eyes within the perifoveal ganglion cell layer and the inner plexiform layer, corresponding to the clinical localization of retinal crystals. More interestingly, a cystoid foveal degeneration on OCT was present in the majority of patients with SLS (18/27 eyes, or 67% of all eyes studied), varying from multiple microcystoid spaces to cystoid foveal atrophy. In general, patients who were severely affected on OCT showed intense changes on previously performed cerebral magnetic resonance spectroscopy.
  
  
  CONCLUSIONS
  Patients with SLS show a childhood-onset crystalline macular dystrophy with cystoid foveal atrophy on OCT in most cases. The intraretinal deposition of lipid metabolites may lead to Müller cell degeneration with subsequent formation of cystoid spaces or atrophic changes within the fovea. Because this macular dystrophy is present in all examined patients with SLS, familiarity with this maculopathy seems important for the diagnosis of this rare systemic disease.
authors.affiliation: Department of Pediatric Neurology, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands.
authors.forename: Joris
authors.initials: J
authors.lastname: Fuijkschot
authors.forename: Johannes R M
authors.initials: JR
authors.lastname: Cruysberg
authors.forename: Michèl A A P
authors.initials: MA
authors.lastname: Willemsen
authors.forename: Jan E E
authors.initials: JE
authors.lastname: Keunen
authors.forename: Thomas
authors.initials: T
authors.lastname: Theelen
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008266:Macula Lutea / Q000473:pathology*; D008268:Macular Degeneration / Q000175:diagnosis* / Q000209:etiology*; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D012189:Retrospective Studies; D016111:Sjogren-Larsson Syndrome / Q000150:complications*; D041623:Tomography, Optical Coherence / Q000379:methods*