title: En face OCT in Stargardt disease.
abstract: OBJECTIVE
  To evaluate the structural features of the macular region by enface OCT imaging in patients with clinical diagnosis of Stargardt disease, confirmed by the detection of ABCA4 mutations.
  
  
  METHODS
  Thirty-two STGD patients were included in the study for a total of 64 eyes. All patients received a comprehensive ophthalmological examination, color fundus photography, fundus auto-fluorescence imaging and OCT. Five OCT scans were considered: ILM and RPE scans (both automatically obtained from the instrument), above-RPE slab, photoreceptor slab and sub-RPE slab (these last three manually obtained).
  
  
  RESULTS
  ILM scans showed evident radial folds on the retinal surface in 8/64 eyes (12.5 %). In 6 of the 7 patients, these vitreo-retinal interface abnormalities were unilateral. The photoreceptor slab showed some macular alterations ranging from dis-homogeneous, hypo-reflective abnormalities (7/64 eyes, 11 %) to a homogeneous, well-defined, roundish, hypo-reflective area (17/64 eyes, 27 %) in all the eyes. The sub-RPE slab showed a centrally evident, hyper-reflective abnormality in 58/64 eyes (90.6 %). Superimposing the sub-RPE slab over the images corresponding to the photoreceptor slab, the area of the photoreceptor atrophy sharply exceeded that of the RPE atrophy (44/46 eyes, 96 %).
  
  
  CONCLUSIONS
  Enface OCT proved to be a clinically useful tool for the management of STGD patients, illustrating in vivo the structural abnormalities of the different retinal layers.
authors.affiliation: Careggi Teaching Hospital , Eye Clinic, University of Florence, Largo Brambilla 3, 50134, Florence, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Sodi
authors.affiliation: Careggi Teaching Hospital , Eye Clinic, University of Florence, Largo Brambilla 3, 50134, Florence, Italy. dario.mucciolo@gmail.com.
authors.forename: Dario Pasquale
authors.initials: DP
authors.lastname: Mucciolo
authors.affiliation: Careggi Teaching Hospital , Eye Clinic, University of Florence, Largo Brambilla 3, 50134, Florence, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Cipollini
authors.affiliation: Careggi Teaching Hospital , Eye Clinic, University of Florence, Largo Brambilla 3, 50134, Florence, Italy.
authors.forename: Vittoria
authors.initials: V
authors.lastname: Murro
authors.affiliation: Careggi Teaching Hospital , Eye Clinic, University of Florence, Largo Brambilla 3, 50134, Florence, Italy.
authors.forename: Orsola
authors.initials: O
authors.lastname: Caporossi
authors.affiliation: Careggi Teaching Hospital , Eye Clinic, University of Florence, Largo Brambilla 3, 50134, Florence, Italy.
authors.forename: Gianni
authors.initials: G
authors.lastname: Virgili
authors.affiliation: Careggi Teaching Hospital , Eye Clinic, University of Florence, Largo Brambilla 3, 50134, Florence, Italy.
authors.forename: Stanislao
authors.initials: S
authors.lastname: Rizzo
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D008268:Macular Degeneration / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009887:Ophthalmoscopy; D015203:Reproducibility of Results; D055213:Retinal Pigment Epithelium / Q000000981:diagnostic imaging*; D012189:Retrospective Studies; D000080362:Stargardt Disease; D041623:Tomography, Optical Coherence / Q000379:methods*; D055815:Young Adult
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters
keywords: Dystrophy; Maculopathy; OCT; Photoreceptors; Retina; Stargardt