title: Reliability and Repeatability of Cone Density Measurements in Patients with Congenital Achromatopsia.
abstract: Adaptive optics scanning light ophthalmoscopy (AOSLO) allows non-invasive assessment of the cone photoreceptor mosaic. Confocal AOSLO imaging of patients with achromatopsia (ACHM) reveals an altered reflectivity of the remaining cone structure, making identification of the cells more challenging than in normal retinas. Recently, a "split-detector" AOSLO imaging method was shown to enable direct visualization of cone inner segments in patients with ACHM. Several studies have demonstrated gene replacement therapy effective in restoring cone function in animal models of ACHM and human trials have on the horizon, making the ability to reliably assess cone structure increasingly important. Here we sought to examine whether absolute estimates of cone density obtained from split-detector and confocal AOSLO images differed from one another and whether the inter- and intra-observer reliability is significantly different between these modes. These findings provide an important foundation for evaluating the role of these images as tools to assess the efficacy of future gene therapy trials.
authors.affiliation: Department of Ophthalmology, The Eye Institute, Medical College of Wisconsin, 925 N. 87th Street, 53226, Milwaukee, WI, USA. mabdelaal@mcw.edu.|Department of Ophthalmology, Sohag University, Sohag, Egypt. mabdelaal@mcw.edu.
authors.forename: Mortada A
authors.initials: MA
authors.lastname: Abozaid
authors.affiliation: Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI, USA. clanglo@mcw.edu.
authors.forename: Christopher S
authors.initials: CS
authors.lastname: Langlo
authors.affiliation: UCL Institute of Ophthalmology, University College London, London, UK. a.dubis@ucl.ac.uk.|Moorfields Eye Hospital, London, UK. a.dubis@ucl.ac.uk.
authors.forename: Adam M
authors.initials: AM
authors.lastname: Dubis
authors.affiliation: UCL Institute of Ophthalmology, University College London, London, UK. michel.michaelides@ucl.ac.uk.|Moorfields Eye Hospital, London, UK. michel.michaelides@ucl.ac.uk.
authors.forename: Michel
authors.initials: M
authors.lastname: Michaelides
authors.affiliation: Division of Biostatistics, Institute for Health and Society, Medical College of Wisconsin, Milwaukee, WI, USA. starima@mcw.edu.
authors.forename: Sergey
authors.initials: S
authors.lastname: Tarima
authors.affiliation: Department of Ophthalmology, The Eye Institute, Medical College of Wisconsin, 925 N. 87th Street, 53226, Milwaukee, WI, USA. jcarroll@mcw.edu.|Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI, USA. jcarroll@mcw.edu.|Department of Biophysics, Medical College of Wisconsin, Milwaukee, WI, USA. jcarroll@mcw.edu.
authors.forename: Joseph
authors.initials: J
authors.lastname: Carroll
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003117:Color Vision Defects / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics; D054815:Cyclic Nucleotide-Gated Cation Channels / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D018613:Microscopy, Confocal / Q000379:methods*; D008875:Middle Aged; D009154:Mutation; D009887:Ophthalmoscopy / Q000379:methods*; D015203:Reproducibility of Results; D017949:Retinal Cone Photoreceptor Cells / Q000378:metabolism / Q000473:pathology*; D012680:Sensitivity and Specificity; D055815:Young Adult
chemical_list: C518238:CNGA3 protein, human; C415904:CNGB3 protein, human; D054815:Cyclic Nucleotide-Gated Cation Channels
keywords: Achromatopsia; Adaptive optics; Cone photoreceptor; Reliability; Repeatability