Examining whether aoslo-based foveal cone metrics in achromatopsia and albinism are representative of foveal cone structure

Katie M. Litts, Erica N. Woertz, Niamh Wynne, Brian P. Brooks, Alicia Chacon, Thomas B. Connor, Deborah Costakos, Alina Dumitrescu, Arlene V. Drack, Gerald A. Fishman, William W. Hauswirth, Christine N. Kay, Byron L. Lam, Michel Michaelides, Mark E. Pennesi, Kimberly E. Stepien, Sasha Strul, C. Gail Summers, Joseph Carroll

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Purpose: Adaptive optics scanning light ophthalmoscopy (AOSLO) imaging in patients with achromatopsia (ACHM) and albinism is not always successful. Here, we tested whether optical coherence tomography (OCT) measures of foveal structure differed between patients for whom AOSLO images were either quantifiable or unquantifiable.

Methods: The study included 166 subjects (84 with ACHM; 82 with albinism) with previously acquired OCT scans, AOSLO images, and best-corrected visual acuity (BCVA, if available). Foveal OCT scans were assessed for outer retinal structure, outer nuclear layer thickness, and hypoplasia. AOSLO images were graded as quantifiable if a peak cone density could be measured and/or usable if the location of peak density could be identified and the parafoveal mosaic was quantifiable.

Results: Forty-nine percent of subjects with ACHM and 57% of subjects with albinism had quantifiable AOSLO images. Older age and better BCVA were found in subjects with quantifiable AOSLO images for both ACHM (P = 0.0214 and P = 0.0276, respectively) and albinism (P = 0.0073 and P < 0.0004, respectively). There was a significant trend between ellipsoid zone appearance and ability to quantify AOSLO (P = 0.0028). In albinism, OCT metrics of cone structure did not differ between groups.

Conclusions: Previously reported AOSLO-based cone density measures in ACHM may not necessarily reflect the degree of remnant cone structure in these patients.

Translational Relevance: Until AOSLO is successful in all patients with ACHM and albinism, the possibility of the reported data from a particular cohort not being representative of the entire population remains an important issue to consider when interpreting results from AOSLO studies.

Original languageEnglish (US)
Article number22
JournalTranslational Vision Science and Technology
Issue number6
StatePublished - 2021

Bibliographical note

Funding Information:
Supported by grants from the National Eye Institute, National Institutes of Health (R01EY017607, R01EY024969, P30EY010572, R24EY022023, T32EY014537, T32GM080202, F32EY029148); by the National Center for Advancing Translational Sciences under award number UL1TR001436; by unrestricted grants from Research to Prevent Blindness to the Casey Eye Institute and University of Florida; and by the Foundation Fighting Blindness. This investigation was conducted in part in a facility constructed with support from a Research Facilities Improvement Program (grant number C06RR016511) from the National Center for Research Resources, National Institutes of Health. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. Additional support was provided by the Gene and Ruth Posner Foundation and Achroma Corp, The Pangere Corportation, Vision for Tomorrow, Fighting Blindness Canada, and a Ronald Keech professorship (to AVD). Additional support has been provided by grants from the National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, The Wellcome Trust (099173/Z/12/Z), Moorfields Eye Charity, Retina UK, and the Foundation Fighting Blindness.

Publisher Copyright:
© 2021 The Authors ournals.org.


  • Achromatopsia
  • Adaptive optics scanning light ophthalmoscopy
  • Albinism
  • Foveal cones
  • Color Vision Defects/diagnosis
  • Humans
  • Albinism/genetics
  • Ophthalmoscopy
  • Benchmarking
  • Aged
  • Visual Acuity

PubMed: MeSH publication types

  • Research Support, Non-U.S. Gov't
  • Journal Article
  • Research Support, N.I.H., Extramural


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