title: Multimodal imaging of the macula in hereditary and acquired lack of macular pigment.
abstract: OBJECTIVE
  Macular pigment (MP) deficit has been described in macular teleangiectasia type 2 (MTA; acquired MP loss) and in Sjögren-Larsson syndrome (SLS; hereditary MP deficiency). Central blue light-induced fundus autofluorescence (FAF) and blue light fundus reflectance (BLR) are thought to reflect MP distribution. This study was performed to describe the macular morphology in SLS and MTA by multimodal imaging to further investigate the causes of FAF and BLR changes in these disorders.
  
  
  METHODS
  This was a single-centre, cross-sectional, retrospective, observational study on SLS and MTA patients treated at our institution. In a multimodal retinal imaging dataset, patterns of BLR and FAF changes were compared with the optical coherence tomography (OCT) and clinical appearance of the patients' retinas.
  
  
  RESULTS
  Multimodal image sets of seven eyes of four patients with SLS and of 25 eyes of 15 patients with MTA were included in this study. In MTA, areas of focal FAF increase were mainly associated with retinal pseudocysts and photoreceptor loss and were co-located with regions of increased BLR. In SLS, areas of focally decreased FAF correlated with the typical intraretinal glistening dots. Frequently, a spot of focally increased FAF was visible at the fovea of SLS patients, often independent of the presence of pseudocysts or photoreceptor loss on OCT.
  
  
  CONCLUSIONS
  In MTA and SLS different patterns of FAF alterations could be observed. The areas of increased BLR, which are thought to correlate with MP loss, appeared to have only restricted correlation with FAF appearance.
authors: Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, the NetherlandsUniversity Eye Clinic, Maastricht, the NetherlandsDepartment of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, the NetherlandsDepartment of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.
authors: Thomas
authors: T
authors: Theelen
authors: Tos T J M
authors: TT
authors: Berendschot
authors: B Jeroen
authors: BJ
authors: Klevering
authors: Joris
authors: J
authors: Fuijkschot
authors: Carel B
authors: CB
authors: Hoyng
authors: Michèl A A P
authors: MA
authors: Willemsen
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D003430:Cross-Sectional Studies; D005451:Fluorescein Angiography; D006801:Humans; D014975:Lutein / Q000172:deficiency; D008266:Macula Lutea / Q000473:pathology*; D008875:Middle Aged; D064847:Multimodal Imaging; D009887:Ophthalmoscopy; D012168:Retinal Pigments / Q000172:deficiency*; D058456:Retinal Telangiectasis / Q000175:diagnosis* / Q000378:metabolism; D012189:Retrospective Studies; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis* / Q000378:metabolism; D041623:Tomography, Optical Coherence; D024341:Xanthophylls / Q000172:deficiency; D055815:Young Adult; D065146:Zeaxanthins
chemical_list: D012168:Retinal Pigments; D024341:Xanthophylls; D065146:Zeaxanthins; D014975:Lutein
keywords: Sjögren-Larsson syndrome; fundus autofluorescence; fundus reflectance; macular pigment; macular teleangiectasia; optical coherence tomography