title: Characterising the phenotype and progression of sporadic adult-onset foveomacular vitelliform dystrophy.
abstract: OBJECTIVE
  Adult-onset foveomacular vitelliform dystrophy (AFVD) is a relatively common macular degeneration which might lead to substantial visual loss. Our purpose was to describe the natural course of genetically evaluated patients with sporadic AFVD.
  
  
  METHODS
  A retrospective, consecutive, cohort study included 95 eyes of 51 patients. Mutations in genes previously associated with AFVD (PRPH2, BEST1, IMPG-1 and IMPG-2) were evaluated. Demographics, clinical characteristics, and spectral domain optical coherence tomography features were analysed. Main outcome measures were changes in the best corrected visual acuity (BCVA) and lesion morphology during the follow-up.
  
  
  RESULTS
  The mean age (±SD) at diagnosis was 73.8±10.7 years. Mean (±SD) follow-up period was 30.4±16.3 months (range 0-44 months; median 25 months). All patients were genotyped negative for the evaluated mutations. Fifty-three of the eyes were followed for at least 36 months. At baseline these eyes had a mean BCVA (±SD) of 0.27±0.35 LogMAR, and at 36-months BCVA decreased to 0.38±0.35 (p=0.02). At baseline, 23 of these 53 eyes (43.4%) had the vitelliform stage, while only 10 eyes (18.9%) remained at this stage at 36 months (p=0.01). Ellipsoid zone alterations progressed during the follow-up (n=53 eyes) and showed correlation with BCVA reduction (Pearson's correlation coefficient=0.7, p=0.03).
  
  
  CONCLUSIONS
  Sporadic AFVD is a slowly progressing macular degeneration of older people. It is associated with visual decline at the rate of approximately one ETDRS line during 3 years. Patients with sporadic AFVD are usually negative for the known mutations previously associated with this phenotype, and present at an age that is higher than described for monogenic AFVD.
authors.affiliation: Department of Ophthalmology, Hadassah-Hebrew University Medical Center and the Hebrew University School of Medicine, Jerusalem, Israel.
authors.forename: Liran
authors.initials: L
authors.lastname: Tiosano
authors.affiliation: Department of Ophthalmology, Hadassah-Hebrew University Medical Center and the Hebrew University School of Medicine, Jerusalem, Israel.
authors.forename: Michelle
authors.initials: M
authors.lastname: Grunin
authors.affiliation: Department of Ophthalmology, Hadassah-Hebrew University Medical Center and the Hebrew University School of Medicine, Jerusalem, Israel.
authors.forename: Shira
authors.initials: S
authors.lastname: Hagbi-Levi
authors.affiliation: Department of Ophthalmology, Hadassah-Hebrew University Medical Center and the Hebrew University School of Medicine, Jerusalem, Israel.
authors.forename: Eyal
authors.initials: E
authors.lastname: Banin
authors.affiliation: Department of Ophthalmology, Hadassah-Hebrew University Medical Center and the Hebrew University School of Medicine, Jerusalem, Israel.
authors.forename: Edward
authors.initials: E
authors.lastname: Averbukh
authors.affiliation: Department of Ophthalmology, Hadassah-Hebrew University Medical Center and the Hebrew University School of Medicine, Jerusalem, Israel.
authors.forename: Itay
authors.initials: I
authors.lastname: Chowers
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D018450:Disease Progression; D005260:Female; D005451:Fluorescein Angiography; D005500:Follow-Up Studies; D005654:Fundus Oculi; D006801:Humans; D008266:Macula Lutea / Q000098:blood supply* / Q000000981:diagnostic imaging; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D012171:Retinal Vessels / Q000000981:diagnostic imaging*; D012189:Retrospective Studies; D041623:Tomography, Optical Coherence / Q000379:methods*; D014792:Visual Acuity; D057826:Vitelliform Macular Dystrophy / Q000175:diagnosis* / Q000503:physiopathology
keywords: Retina