title: Outer retinal structure in best vitelliform macular dystrophy.
abstract: OBJECTIVE
  Demonstrating the utility of adaptive optics scanning light ophthalmoscopy (AOSLO) to assess outer retinal structure in Best vitelliform macular dystrophy (BVMD).
  
  
  OBJECTIVE
  To characterize outer retinal structure in BVMD using spectral-domain optical coherence tomography (SD-OCT) and AOSLO.
  
  
  METHODS
  Prospective, observational case series. Four symptomatic members of a family with BVMD with known BEST1 mutation were recruited at the Advanced Ocular Imaging Program research lab at the Medical College of Wisconsin Eye Institute, Milwaukee.
  
  
  METHODS
  Thickness of 2 outer retinal layers corresponding to photoreceptor inner and outer segments was measured using SD-OCT. Photoreceptor mosaic AOSLO images within and around visible lesions were obtained, and cone density was assessed in 2 subjects.
  
  
  METHODS
  Photoreceptor structure.
  
  
  RESULTS
  Each subject was at a different stage of BVMD, with photoreceptor disruption evident by AOSLO at all stages. When comparing SD-OCT and AOSLO images from the same location, AOSLO images allowed for direct assessment of photoreceptor structure. A variable degree of retained photoreceptors was seen within all lesions. The photoreceptor mosaic immediately adjacent to visible lesions appeared contiguous and was of normal density. Fine hyperreflective structures were visualized by AOSLO, and their anatomical orientation and size were consistent with Henle fibers.
  
  
  CONCLUSIONS
  AND RELEVANCE: The AOSLO findings indicate that substantial photoreceptor structure persists within active lesions, accounting for good visual acuity in these patients. Despite previous reports of diffuse photoreceptor outer segment abnormalities in BVMD, our data reveal normal photoreceptor structure in areas adjacent to clinical lesions. This study demonstrates the utility of AOSLO for understanding the spectrum of cellular changes that occur in inherited degenerations such as BVMD. Photoreceptors are often significantly affected at various stages of inherited degenerations, and these changes may not be readily apparent with current clinical imaging instrumentation.
authors.affiliation: Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin.
authors.forename: David B
authors.initials: DB
authors.lastname: Kay
authors.forename: Megan E
authors.initials: ME
authors.lastname: Land
authors.forename: Robert F
authors.initials: RF
authors.lastname: Cooper
authors.forename: Adam M
authors.initials: AM
authors.lastname: Dubis
authors.forename: Pooja
authors.initials: P
authors.lastname: Godara
authors.forename: Alfredo
authors.initials: A
authors.lastname: Dubra
authors.forename: Joseph
authors.initials: J
authors.lastname: Carroll
authors.forename: Kimberly E
authors.initials: KE
authors.lastname: Stepien
mesh_terms: D000293:Adolescent; D058452:Axial Length, Eye / Q000473:pathology; D000075002:Bestrophins; D018118:Chloride Channels / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009887:Ophthalmoscopy; D010375:Pedigree; D011446:Prospective Studies; D055214:Retinal Photoreceptor Cell Outer Segment / Q000473:pathology*; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D057826:Vitelliform Macular Dystrophy / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins