title: PHOTORECEPTOR INNER SEGMENT MORPHOLOGY IN BEST VITELLIFORM MACULAR DYSTROPHY.
abstract: OBJECTIVE
  To characterize outer retina structure in best vitelliform macular dystrophy (BVMD) and to determine the effect of macular lesions on overlying and adjacent photoreceptors.
  
  
  METHODS
  Five individuals with BVMD were followed prospectively with spectral domain optical coherence tomography and confocal and nonconfocal split-detector adaptive optics scanning light ophthalmoscopy (AOSLO). The AOSLO cone photoreceptor mosaic images were obtained within and around retinal lesions. Cone density was measured inside and outside lesions. In 2 subjects, densities were compared with published measurements acquired ∼2.5 years before. One subject was imaged 3 times over a 5-month period.
  
  
  RESULTS
  The AOSLO imaging demonstrated that photoreceptor morphology within BVMD retinal lesions was highly variable depending on the disease stage, with photoreceptor structure present even in advanced disease. The AOSLO imaging was repeatable even in severe disease over short-time and long-time intervals. Photoreceptor density was normal in retinal areas immediately adjacent to lesions and stable over ∼2.5 years. Mobile disk-like structures possibly representing subretinal macrophages were also observed.
  
  
  CONCLUSIONS
  Combined confocal and nonconfocal split-detector AOSLO imaging reveals substantial variability within clinical lesions in all stages of BVMD. Longitudinal cellular photoreceptor imaging could prove a powerful tool for understanding disease progression and monitoring emerging therapeutic treatment response in inherited degenerations such as BVMD.
authors.affiliation: *Department of Biomedical Engineering, University of Rochester, Rochester, New York; †Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin; ‡Department of Biomedical Engineering, Marquette University, Milwaukee, Wisconsin; §Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin; and ¶Department of Biophysics, Medical College of Wisconsin, Milwaukee, Wisconsin.
authors.forename: Drew
authors.initials: D
authors.lastname: Scoles
authors.forename: Yusufu N
authors.initials: YN
authors.lastname: Sulai
authors.forename: Robert F
authors.initials: RF
authors.lastname: Cooper
authors.forename: Brian P
authors.initials: BP
authors.lastname: Higgins
authors.forename: Ryan D
authors.initials: RD
authors.lastname: Johnson
authors.forename: Joseph
authors.initials: J
authors.lastname: Carroll
authors.forename: Alfredo
authors.initials: A
authors.lastname: Dubra
authors.forename: Kimberly E
authors.initials: KE
authors.lastname: Stepien
mesh_terms: D000293:Adolescent; D000328:Adult; D002452:Cell Count; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009887:Ophthalmoscopy / Q000379:methods; D011446:Prospective Studies; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology*; D055211:Retinal Photoreceptor Cell Inner Segment / Q000473:pathology*; D041623:Tomography, Optical Coherence / Q000379:methods; D057826:Vitelliform Macular Dystrophy / Q000473:pathology*; D055815:Young Adult