title: Multimodal analysis of the Preferred Retinal Location and the Transition Zone in patients with Stargardt Disease.
abstract: OBJECTIVE
  The purpose of our study was to investigate morpho-functional features of the preferred retinal location (PRL) and the transition zone (TZ) in a series of patients with recessive Stargardt disease (STGD1).
  
  
  METHODS
  Fifty-two STGD1 patients with at least one ABCA4 mutation, atrophy of the central macula (MA) and an eccentric PRL were recruited for the study. Microperimetry, fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT) were performed. The location and stability of the PRL along with the associated FAF pattern and visual sensitivities were determined and compared to the underlying retinal structure.
  
  
  RESULTS
  The mean visual sensitivity of the PRLs for the 52 eyes was 10.76 +/- 3.70 dB. For the majority of eyes, PRLs were associated with intact ellipsoid zone (EZ) bands and qualitatively normal FAF patterns. In 17 eyes (32.7%) the eccentric PRL was located at the edge of the MA. In 35 eyes (67.3%) it was located at varying distances from the border of the MA with a TZ between the PRL and the MA. The TZ was associated with decreased sensitivity values (5.92 +/- 4.69 dB) compared to PRLs (p<0.05), with absence/disruption of the EZ band and abnormal FAF patterns (hyper or hypo-autofluorescence).
  
  
  CONCLUSIONS
  In STGD1 eccentric PRLs are located away from the border of MA and associated with intact EZ bands and normal FAF. The TZ is characterized by structural and functional abnormalities. The results of multimodal imaging of the PRL and TZ suggest a possible sequence of retinal and functional changes with disease progression that may help in the planning of future therapies; RPE dysfunction appears to be the primary event leading to photoreceptor degeneration and then to RPE loss.
authors.affiliation: Institute of Ophthalmology, University of Modena and Reggio Emilia, Via del Pozzo 71, 41100, Modena, Italy. tommaso.verdina@gmail.com.
authors.forename: Tommaso
authors.identifier: http://orcid.org/0000-0001-7877-4485
authors.initials: T
authors.lastname: Verdina
authors.affiliation: Department of Ophthalmology, Columbia University, New York, NY, USA.
authors.forename: Vivienne C
authors.initials: VC
authors.lastname: Greenstein
authors.affiliation: Department of Translational Surgery and Medicine, Eye Clinic, University of Florence, Largo Brambilla 3, Florence, 50134, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Sodi
authors.affiliation: Department of Ophthalmology, Columbia University, New York, NY, USA.|Barbara & Donald Jonas Stem Cell & Regenerative Medicine Laboratory, and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology & Cell Biology, Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, NY, 10032, USA.
authors.forename: Stephen H
authors.initials: SH
authors.lastname: Tsang
authors.affiliation: Department of Ophthalmology, Columbia University, New York, NY, USA.
authors.forename: Tomas R
authors.initials: TR
authors.lastname: Burke
authors.affiliation: Department of Genetic Diagnostics, Azienda Ospedaliero Universitaria Careggi, Florence, Italy.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Passerini
authors.affiliation: Department of Ophthalmology, Columbia University, New York, NY, USA.|Barbara & Donald Jonas Stem Cell & Regenerative Medicine Laboratory, and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology & Cell Biology, Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, NY, 10032, USA.
authors.forename: Rando
authors.initials: R
authors.lastname: Allikmets
authors.affiliation: Department of Translational Surgery and Medicine, Eye Clinic, University of Florence, Largo Brambilla 3, Florence, 50134, Italy.
authors.forename: Gianni
authors.initials: G
authors.lastname: Virgili
authors.affiliation: Institute of Ophthalmology, University of Modena and Reggio Emilia, Via del Pozzo 71, 41100, Modena, Italy.
authors.forename: Gian Maria
authors.initials: GM
authors.lastname: Cavallini
authors.affiliation: Department of Translational Surgery and Medicine, Eye Clinic, University of Florence, Largo Brambilla 3, Florence, 50134, Italy.
authors.forename: Stanislao
authors.initials: S
authors.lastname: Rizzo
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D005451:Fluorescein Angiography / Q000379:methods; D005654:Fundus Oculi; D006801:Humans; D008266:Macula Lutea / Q000473:pathology*; D008268:Macular Degeneration / Q000151:congenital* / Q000175:diagnosis / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D064847:Multimodal Imaging / Q000379:methods*; D009887:Ophthalmoscopy / Q000379:methods; D015203:Reproducibility of Results; D055213:Retinal Pigment Epithelium / Q000473:pathology*; D012189:Retrospective Studies; D000080362:Stargardt Disease; D041623:Tomography, Optical Coherence / Q000379:methods; D014792:Visual Acuity; D014794:Visual Fields; D055815:Young Adult
keywords: Eccentric fixation; Fundus autofluorescence; Fundus flavimaculatus; Microperimetry; Preferred retinal location; SD-OCT; Stargardt disease