title: Quantification of peripapillary sparing and macular involvement in Stargardt disease (STGD1).
abstract: OBJECTIVE
  To quantify and compare structure and function across the macula and peripapillary area in Stargardt disease (STGD1).
  
  
  METHODS
  Twenty-seven patients (27 eyes) and 12 age-similar controls (12 eyes) were studied. Patients were classified on the basis of full-field electroretinogram (ERG) results: Fundus autofluorescence (FAF) and spectral domain-optical coherence tomography (SD-OCT) horizontal line scans were obtained through the fovea and peripapillary area. The thicknesses of the outer nuclear layer plus outer plexiform layer (ONL+), outer segment (OS), and retinal pigment epithelium (RPE) were measured through the fovea, and peripapillary areas from 1° to 4° temporal to the optic disc edge using a computer-aided, manual segmentation technique. Visual sensitivities in the central 10° were assessed using microperimetry and related to retinal layer thicknesses.
  
  
  RESULTS
  Compared to the central macula, the differences between controls and patients in ONL+, OS, and RPE layer thicknesses were less in the nasal and temporal macula. Relative sparing of the ONL+ and/or OS layers was detected in the nasal (i.e., peripapillary) macula in 8 of 13 patients with extramacular disease on FAF; relative functional sparing was also detected in this subgroup. All 14 patients with disease confined to the central macula, as detected on FAF, showed ONL+ and OS layer thinning in regions of normal RPE thickness.
  
  
  CONCLUSIONS
  Relative peripapillary sparing was detected in STGD1 patients with extramacular disease on FAF. Photoreceptor thinning may precede RPE degeneration in STGD1.
authors.affiliation: Department of Ophthalmology, Columbia University, New York, New York, USA. tomasburke30@gmail.com
authors.forename: Tomas R
authors.initials: TR
authors.lastname: Burke
authors.forename: David W
authors.initials: DW
authors.lastname: Rhee
authors.forename: R Theodore
authors.initials: RT
authors.lastname: Smith
authors.forename: Stephen H
authors.initials: SH
authors.lastname: Tsang
authors.forename: Rando
authors.initials: R
authors.lastname: Allikmets
authors.forename: Stanley
authors.initials: S
authors.lastname: Chang
authors.forename: Margot A
authors.initials: MA
authors.lastname: Lazow
authors.forename: Donald C
authors.initials: DC
authors.lastname: Hood
authors.forename: Vivienne C
authors.initials: VC
authors.lastname: Greenstein
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000293:Adolescent; D000328:Adult; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009898:Optic Disk / Q000473:pathology*; D011446:Prospective Studies; D055211:Retinal Photoreceptor Cell Inner Segment / Q000473:pathology*; D055213:Retinal Pigment Epithelium / Q000473:pathology*; D012374:Rod Cell Outer Segment / Q000473:pathology*; D000080362:Stargardt Disease; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D058609:Visual Field Tests; D014794:Visual Fields; D055815:Young Adult
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters