title: En Face Spectral-Domain Optical Coherence Tomography for the Monitoring of Lesion Area Progression in Stargardt Disease.
abstract: We investigated the progression of Stargardt disease (STGD1) over a multiyear follow-up by evaluating the macular lesion area as computed by an automatic algorithm from spectral-domain optical coherence tomography (SD-OCT).
  
  
  
  We reviewed medical records of STGD1 patients, with a clinical and molecular diagnosis of STGD1 at a single institution, who underwent best-corrected visual acuity (BCVA), fundus photography, SD-OCT, full-field electroretinography, and, when available, fundus autofluorescence (FAF). Regression models were fitted on the selected clinical parameters; in particular, on the macular lesion area computed by SD-OCT, to evaluate the disease progression over a multiyear follow-up.
  
  
  
  The comparison between SD-OCT and FAF, available for 22 patients, showed that macular lesion area, assessed by SD-OCT, significantly correlated with the area of absent FAF (P < 0.001). Moreover, the longitudinal analysis, performed in 98 patients, showed a significant enlargement of macular lesion area at an estimated exponential rate of 4.6% per year (P = 0.046), together with a significant worsening of BCVA (0.06 logMAR per year; P < 0.001) and a significant decrease of macular thickness (1.6% per year; P = 0.005) over the follow-up.
  
  
  
  The current study describes, for the first time in literature, a longitudinal analysis of the macular lesion area assessed by SD-OCT in STGD1 disease, showing a significant progression over the follow-up. Our findings suggest that the evaluation of macular lesion area by en face SD-OCT, together with FAF, could drive the choice of the most amenable candidates and the most suitable area to be treated in gene therapy clinical trials.
authors.affiliation: Eye Clinic Multidisciplinary Department of Medical, Surgical and Dental Sciences, Second University of Naples, Naples, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Melillo
authors.affiliation: Eye Clinic Multidisciplinary Department of Medical, Surgical and Dental Sciences, Second University of Naples, Naples, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Testa
authors.affiliation: Eye Clinic Multidisciplinary Department of Medical, Surgical and Dental Sciences, Second University of Naples, Naples, Italy.
authors.forename: Settimio
authors.initials: S
authors.lastname: Rossi
authors.affiliation: Eye Clinic Multidisciplinary Department of Medical, Surgical and Dental Sciences, Second University of Naples, Naples, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Di Iorio
authors.affiliation: Eye Clinic Multidisciplinary Department of Medical, Surgical and Dental Sciences, Second University of Naples, Naples, Italy.
authors.forename: Ada
authors.initials: A
authors.lastname: Orrico
authors.affiliation: Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy 3Department of Translational Medicine, "Federico II" University, Napoli, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Auricchio
authors.affiliation: Eye Clinic Multidisciplinary Department of Medical, Surgical and Dental Sciences, Second University of Naples, Naples, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Simonelli
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000465:Algorithms; D002648:Child; D018450:Disease Progression; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005500:Follow-Up Studies; D005654:Fundus Oculi; D006801:Humans; D008266:Macula Lutea / Q000473:pathology* / Q000503:physiopathology; D008268:Macular Degeneration / Q000151:congenital* / Q000175:diagnosis / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D008991:Monitoring, Physiologic / Q000379:methods*; D009887:Ophthalmoscopy; D055213:Retinal Pigment Epithelium / Q000473:pathology* / Q000503:physiopathology; D012189:Retrospective Studies; D000080362:Stargardt Disease; D013997:Time Factors; D041623:Tomography, Optical Coherence / Q000379:methods*; D014792:Visual Acuity; D055815:Young Adult