title: Human photoreceptor outer segments shorten during light adaptation.
abstract: OBJECTIVE
  Best disease is a macular dystrophy caused by mutations in the BEST1 gene. Affected individuals exhibit a reduced electro-oculographic (EOG) response to changes in light exposure and have significantly longer outer segments (OS) than age-matched controls. The purpose of this study was to investigate the anatomical changes in the outer retina during dark and light adaptation in unaffected and Best disease subjects, and to compare these changes to the EOG.
  
  
  METHODS
  Unaffected (n = 11) and Best disease patients (n = 7) were imaged at approximately 4-minute intervals during an approximately 40-minute dark-light cycle using spectral domain optical coherence tomography (SD-OCT). EOGs of two subjects were obtained under the same conditions. Automated three-dimensional (3-D) segmentation allowed measurement of light-related changes in the distances between five retinal surfaces.
  
  
  RESULTS
  In normal subjects, there was a significant decrease in outer segment equivalent length (OSEL) of -2.14 μm (95% confidence interval [CI], -1.77 to -2.51 μm) 10 to 20 minutes after the start of light adaptation, while Best disease subjects exhibited a significant increase in OSEL of 2.07 μm (95% CI, 1.79-2.36 μm). The time course of the change in OS length corresponded to that of the EOG waveform.
  
  
  CONCLUSIONS
  Our results strongly suggest that the light peak phase of the EOG is temporally related to a decreased OSEL in normal subjects, and the lack of a light peak phase in Best disease subjects is associated with an increase in OSEL. One potential role of Bestrophin-1 is to trigger an increase in the standing potential that approximates the OS to the apical surface of the RPE to facilitate phagocytosis.
authors: Institute for Vision Research, University of Iowa, Iowa City, IA 52242, USA.
authors: Michael D
authors: MD
authors: Abràmoff
authors: Robert F
authors: RF
authors: Mullins
authors: Kyungmoo
authors: K
authors: Lee
authors: Jeremy M
authors: JM
authors: Hoffmann
authors: Milan
authors: M
authors: Sonka
authors: Douglas B
authors: DB
authors: Critser
authors: Steven F
authors: SF
authors: Stasheff
authors: Edwin M
authors: EM
authors: Stone
mesh_terms: D000221:Adaptation, Ocular / Q000502:physiology*; D000328:Adult; D003623:Dark Adaptation / Q000502:physiology; D004585:Electrooculography; D005125:Eye Banks; D005260:Female; D005838:Genotype; D006801:Humans; D021621:Imaging, Three-Dimensional; D008297:Male; D008875:Middle Aged; D010587:Phagocytosis / Q000502:physiology; D011446:Prospective Studies; D055214:Retinal Photoreceptor Cell Outer Segment / Q000473:pathology* / Q000502:physiology*; D055213:Retinal Pigment Epithelium / Q000502:physiology; D041623:Tomography, Optical Coherence; D057826:Vitelliform Macular Dystrophy / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology*
keywords: Best disease; OCT; eletro-oculogram; photoreceptor cells
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