title: Multimodal analysis of the progression of Best vitelliform macular dystrophy.
abstract: OBJECTIVE
  To investigate the multimodal morphological features in the different stages of Best vitelliform macular dystrophy (VMD) in subjects harboring mutations in the BEST1 gene, and their changes during the progression of the disease.
  
  
  METHODS
  In this retrospective observational study performed between January 2007 and December 2012, 21 patients (42 eyes) with Best VMD from eight families with the BEST1 mutation were included. Best-corrected visual acuity (BCVA), fundus autofluorescence (FAF), and spectral domain optical coherence tomography (SDOCT) were evaluated at study entry and at last visit.
  
  
  RESULTS
  The mean age of patients was 26.3±17.4 years. Seven new missense mutations in BEST1 were identified. Mean follow-up was 41.1±18.5 months. Mean BCVA was 0.34±0.34 LogMAR at study entry and 0.32±0.33 LogMAR at last follow-up visit (p = 0.2). The overall lesion area on FAF increased from 6.62±4.9 mm² to 7.34±6.1 mm² (p = 0.05). At study entry, on SD-OCT, photoreceptor inner segment ellipsoid portion (ellipsoid zone, EZ) was normal in 15 eyes, disrupted in 14 eyes, and absent in 13 eyes. In two eyes, EZ changed from normal to disrupted during follow-up. Three eyes of three patients showing pseudohypopyon lesions at study entry progressed to vitelliruptive lesions at the last follow-up visit. Three eyes of three patients showing vitelliruptive lesion at study entry reverted to pseudohypopyon lesion with overall enlargement of the lesion size.
  
  
  CONCLUSIONS
  Multimodal analysis allowed documenting a continuous material accumulation and reabsorption in Best VMD progression. Blue FAF and SD-OCT could represent noninvasive imaging techniques to monitor Best VMD.
authors.affiliation: Department of Ophthalmology, Hopital Intercommunal de Creteil, University Paris Est Creteil, France.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Querques
authors.affiliation: Department of Ophthalmology, Hopital Intercommunal de Creteil, University Paris Est Creteil, France.
authors.forename: Jennyfer
authors.initials: J
authors.lastname: Zerbib
authors.affiliation: Department of Ophthalmology, Hopital Intercommunal de Creteil, University Paris Est Creteil, France.
authors.forename: Anouk
authors.initials: A
authors.lastname: Georges
authors.affiliation: Department of Ophthalmology, Hopital Intercommunal de Creteil, University Paris Est Creteil, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Massamba
authors.affiliation: Department of Ophthalmology, Hopital Intercommunal de Creteil, University Paris Est Creteil, France.
authors.forename: Raimondo
authors.initials: R
authors.lastname: Forte
authors.affiliation: Department of Ophthalmology, Hopital Intercommunal de Creteil, University Paris Est Creteil, France.
authors.forename: Lea
authors.initials: L
authors.lastname: Querques
authors.affiliation: Department of Genetics, Necker Hospital, University Paris V, Paris, France.
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Rozet
authors.affiliation: Department of Genetics, Necker Hospital, University Paris V, Paris, France.
authors.forename: Josseline
authors.initials: J
authors.lastname: Kaplan
authors.affiliation: Department of Ophthalmology, Hopital Intercommunal de Creteil, University Paris Est Creteil, France.
authors.forename: Eric H
authors.initials: EH
authors.lastname: Souied
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D018450:Disease Progression; D005260:Female; D005453:Fluorescence; D005500:Follow-Up Studies; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D008875:Middle Aged; D064847:Multimodal Imaging; D041623:Tomography, Optical Coherence; D057826:Vitelliform Macular Dystrophy / Q000175:diagnosis* / Q000473:pathology*; D055815:Young Adult