title: Near-infrared fundus autofluorescence in subclinical best vitelliform macular dystrophy.
abstract: OBJECTIVE
  To describe fundus autofluorescence (FAF) on short-wavelength FAF and near-infrared FAF in the subclinical form of Best vitelliform macular dystrophy.
  
  
  METHODS
  Cross-sectional prospective study.
  
  
  METHODS
  Patients affected by the subclinical form of Best vitelliform macular dystrophy (positive testing for BEST1 gene mutation, fully preserved best-corrected visual acuity, normal fundus appearance) were recruited. Each patient underwent a complete ophthalmologic examination, including electro-oculogram (EOG), short-wavelength FAF, near-infrared FAF, spectral-domain OCT (SD OCT), and microperimetry. Main outcome measure was the identification of abnormal FAF patterns.
  
  
  RESULTS
  Forty-six patients showing mutations in the BEST1 gene were examined. Forty patients presented a bilateral Best vitelliform macular dystrophy, 2 patients showed a unilateral Best vitelliform macular dystrophy, and 4 patients had a bilateral subclinical form. Patients with the unilateral form (2 eyes) and patients with the subclinical form (8 eyes) were analyzed. Three BEST1 sequence variants were identified: c.73C>T (p.Arg25Trp), c.28G>A (p.Ala10Thr), and c.652C>G (p.Arg218Gly). Short-wavelength FAF was normal in all eyes. Near-infrared FAF detected a pattern consisting of a central hypo-autofluorescence surrounded by a round area of hyper-autofluorescence. A bilateral reduced EOG response was detected in 1 patient. SD OCT revealed a thicker, well-defined, and more reflective interdigitation zone in 2 patients (4 eyes, 40%). Microperimetry of the central 10 degrees revealed a slight, diffuse reduction of retinal sensitivity. Mean retinal sensitivity within the central 2 and 4 degrees was lower and matched the hypo-autofluorescent area detected on near-infrared FAF. Additional relative scotomata were detected within the 10-degree area. No change in clinical, functional, or FAF pattern was found over the follow-up.
  
  
  CONCLUSIONS
  Subclinical Best vitelliform macular dystrophy is characterized by the absence of biomicroscopic fundus abnormality and fully preserved visual acuity, but shows an abnormal near-infrared FAF pattern, with central hypo-autofluorescence.
authors.affiliation: Department of Ophthalmology, University Vita-Salute, Scientific Institute San Raffaele, Milan, Italy.
authors.forename: Maurizio Battaglia
authors.initials: MB
authors.lastname: Parodi
authors.affiliation: Fondazione G. B. Bietti per l'Oftalmologia, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy. Electronic address: pierluigi.iacono@libero.it.
authors.forename: Pierluigi
authors.initials: P
authors.lastname: Iacono
authors.affiliation: Department of Ophthalmology, University Vita-Salute, Scientific Institute San Raffaele, Milan, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Del Turco
authors.affiliation: Department of Ophthalmology, University Vita-Salute, Scientific Institute San Raffaele, Milan, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Bandello
mesh_terms: D000328:Adult; D000075002:Bestrophins; D002648:Child; D018118:Chloride Channels / Q000235:genetics; D003430:Cross-Sectional Studies; D004585:Electrooculography; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D007259:Infrared Rays; D008297:Male; D008875:Middle Aged; D009154:Mutation; D061848:Optical Imaging; D011446:Prospective Studies; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D058609:Visual Field Tests; D014794:Visual Fields / Q000502:physiology; D057826:Vitelliform Macular Dystrophy / Q000175:diagnosis* / Q000235:genetics
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins