title: OPHTHALMIC FINDINGS IN LATE STAGE SJOGREN-LARSSON SYNDROME.
abstract: OBJECTIVE
  To report spectral domain optical coherence tomography and fundus autofluorescence documentation of late stage macular findings associated with Sjogren-Larsson Syndrome in three adult siblings.
  
  
  METHODS
  Three adult siblings with Sjogren-Larsson Syndrome underwent ophthalmic examination and imaging.
  
  
  RESULTS
  Crystalline maculopathy and subretinal deposits, presumably lipofuscin accumulation, with macular atrophy were present in varying degrees in all three adult siblings.
  
  
  CONCLUSIONS
  In adults with Sjogren-Larsson Syndrome, crystalline retinopathy can progress to macular atrophy and the appearance of lipofuscin accumulation.
authors.affiliation: Harkness Eye Institute, Columbia University Medical Center.
authors.forename: Tavish
authors.initials: T
authors.lastname: Nanda
authors.affiliation: Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Naples, Florida.
authors.forename: Jaclyn L
authors.initials: JL
authors.lastname: Kovach
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008062:Lipofuscin / Q000378:metabolism; D008266:Macula Lutea / Q000473:pathology; D008297:Male; D012164:Retinal Diseases / Q000378:metabolism / Q000473:pathology*; D055213:Retinal Pigment Epithelium / Q000473:pathology; D035781:Siblings; D016111:Sjogren-Larsson Syndrome / Q000150:complications*
chemical_list: D008062:Lipofuscin