title: High-resolution in vivo imaging in achromatopsia.
abstract: OBJECTIVE
  To characterize the retinal changes in patients with achromatopsia using an ultrahigh-resolution (UHR) spectral-domain optical coherence tomography (OCT) to examine how human achromatopsia corresponds to its animal model.
  
  
  METHODS
  Comparative case series.
  
  
  METHODS
  Ultrahigh-resolution OCT (Copernicus; OPTOPOL Technology S.A., Zawiercie, Poland; 3-μm axial resolution) was used to obtain scans from 13 patients (26 eyes) with achromatopsia and from 20 controls (40 eyes).
  
  
  METHODS
  A 3-dimensional scan program (743×75; A×B scan) sampling a 7×7-mm retinal area centered at the fovea was used to obtain tomograms of the fovea. Individual B-scans at the fovea were exported and analyzed using ImageJ (Wayne Rasband, National Institute of Health) for reflectance profiles and morphologic abnormalities.
  
  
  METHODS
  Gross morphologic changes in OCT were characterized. Specifically, inner segment and outer segment (IS/OS) junction and cone outer segment tip (COST) disruption was noted. Using the reflectance profiles, foveal depth, thickness of the outer nuclear layer (ONL), and retinal thickness (RT) were measured.
  
  
  RESULTS
  A characteristic so-called punched out hyporeflective zone (HRZ) was noted in 7 of 13 patients; this was age-dependent (P = 0.001). The area of the HRZ was asymmetric with the nasal area being significantly greater than the temporal area (P = 0.002). In all patients, there was disruption of the IS/OS junction at the foveal or parafoveal regions, or both. Five of 13 patients also had a disrupted COST reflectivity. There was significant (P = 1.1×10(-6)) ONL thinning in the achromats compared with controls, which was age-dependent (P = 0.0002). Foveal maldevelopment was seen in 9 of 13 patients. The achromats also had a significantly reduced foveal depth (P = 7.7×10(-6)) and RT (P = 1.46×10(-9)) compared with controls.
  
  
  CONCLUSIONS
  A range of signs in achromatopsia are described that can be detected using UHR OCT. The IS/OS junction and COST reflectivity disruption and presence of HRZ and ONL thinning are signs of cone photoreceptor degeneration. The latter 2 are age-dependent, which suggests that achromatopsia is a progressive disorder. In addition, foveal maldevelopment is described; this represents a fetal developmental defect linked to cone photoreceptor degeneration.
authors.affiliation: Ophthalmology Group, School of Medicine, University of Leicester, Leicester, United Kingdom.
authors.forename: Mervyn G
authors.initials: MG
authors.lastname: Thomas
authors.forename: Anil
authors.initials: A
authors.lastname: Kumar
authors.forename: Susanne
authors.initials: S
authors.lastname: Kohl
authors.forename: Frank A
authors.initials: FA
authors.lastname: Proudlock
authors.forename: Irene
authors.initials: I
authors.lastname: Gottlob
mesh_terms: D000293:Adolescent; D000328:Adult; D000818:Animals; D002648:Child; D002675:Child, Preschool; D003117:Color Vision Defects / Q000175:diagnosis*; D004195:Disease Models, Animal; D006801:Humans; D008875:Middle Aged; D012160:Retina / Q000473:pathology*; D041623:Tomography, Optical Coherence / Q000379:methods*; D014792:Visual Acuity / Q000502:physiology; D055815:Young Adult