title: Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy.
abstract: OBJECTIVE
  Quantitative fundus autofluorescence (qAF), spectral domain optical coherence tomography (SD-OCT) segmentation, and multimodal imaging were performed to elucidate the pathogenesis of Best vitelliform macular dystrophy (BVMD) and to identify abnormalities in lesion versus nonlesion fundus areas.
  
  
  METHODS
  Sixteen patients with a clinical diagnosis of BVMD were studied. Autofluorescence images (30°, 488-nm excitation) were acquired with a confocal scanning laser ophthalmoscope equipped with an internal fluorescent reference to account for variable laser power and detector sensitivity. The grey levels (GLs) of each image were calibrated to the reference, zero GL, magnification, and normative optical media density, to yield qAF. Horizontal SD-OCT scans were obtained and retinal layers manually segmented. Additionally, color and near-infrared reflectance (NIR-R) images were registered to AF images. All patients were screened for mutations in BEST1. In three additional BVMD patients, in vivo spectrofluorometric measurements were obtained within the vitelliform lesion.
  
  
  RESULTS
  Mean nonlesion qAF was within normal limits for age. Maximum qAF within the lesion was markedly increased compared with controls. By SD-OCT segmentation, outer segment equivalent thickness was increased and outer nuclear layer thickness decreased in the lesion. Changes were also present in a transition zone beyond the lesion border. In subclinical patients, no abnormalities in retinal layer thickness were identified. Fluorescence spectra recorded from the vitelliform lesion were consistent with those of retinal pigment epithelial cell lipofuscin.
  
  
  CONCLUSIONS
  Based on qAF, mutations in BEST1 do not cause increased lipofuscin levels in nonlesion fundus areas.
authors: Department of Ophthalmology, Harkness Eye Institute, Columbia University, New York, New York.
authors: Tobias
authors: T
authors: Duncker
authors: Jonathan P
authors: JP
authors: Greenberg
authors: Rithambara
authors: R
authors: Ramachandran
authors: Donald C
authors: DC
authors: Hood
authors: R Theodore
authors: RT
authors: Smith
authors: Tatsuo
authors: T
authors: Hirose
authors: Russell L
authors: RL
authors: Woods
authors: Stephen H
authors: SH
authors: Tsang
authors: François C
authors: FC
authors: Delori
authors: Janet R
authors: JR
authors: Sparrow
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D008062:Lipofuscin; D008297:Male; D008875:Middle Aged; D009887:Ophthalmoscopy / Q000379:methods; D055213:Retinal Pigment Epithelium / Q000473:pathology*; D041623:Tomography, Optical Coherence / Q000379:methods*; D057826:Vitelliform Macular Dystrophy / Q000175:diagnosis*; D055815:Young Adult
chemical_list: D008062:Lipofuscin
keywords: Best vitelliform macular dystrophy; bestrophin; lipofuscin; optical coherence tomography; quantitative fundus autofluorescence; retina; retinal pigment epithelium; scanning laser ophthalmoscope