June 2022
Volume 63, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2022
Longitudinal Assessment of Cone Structure in Achromatopsia
Author Affiliations & Notes
  • Garrett Grissim
    School of Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
  • Rachel Linderman
    Wisconsin Reading Center, Ophthalmology & Visual Sciences, University of Wisconsin-Madison, Madison, Wisconsin, United States
  • Joseph Carroll
    Cell Biology, Neurobiology & Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
    Ophthalmology & Visual Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
  • Footnotes
    Commercial Relationships   Garrett Grissim None; Rachel Linderman None; Joseph Carroll AGTC, Code C (Consultant/Contractor), OptoVue, Code F (Financial Support), AGTC, Code F (Financial Support), MeiraGTX, Code F (Financial Support), Translational Imaging Innovations , Code I (Personal Financial Interest)
  • Footnotes
    Support  R01EY017607, FFB-BR-CL-0720-0784-MCW, UTL1TR001436, BCM Families Foundation
Investigative Ophthalmology & Visual Science June 2022, Vol.63, 2239 – F0447. doi:
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      Garrett Grissim, Rachel Linderman, Joseph Carroll; Longitudinal Assessment of Cone Structure in Achromatopsia. Invest. Ophthalmol. Vis. Sci. 2022;63(7):2239 – F0447.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose : Achromatopsia (ACHM) is an autosomal recessive disease that results in reduced or absent cone function. There is controversy regarding the extent to which cone structure shows progressive degeneration in ACHM. Here we performed a retrospective review of optical coherence tomography (OCT) images to evaluate cone structure over time in patients with genetically confirmed ACHM.

Methods : Sixty-three patients with ACHM (due to CNGA3, CNGB3, or ATF6 mutations) with Bioptigen or Cirrus OCT images from multiple time points stored in the Advanced Ocular Imaging Program Bank were included. Integrity of the ellipsoid zone (EZ) was assessed twice by a single grader (GG) in a masked fashion using the grading scale from Sundaram et al (2014).1 Images with disparate grades between the two assessments were finalized by a second grader (JC).

Results : A total of 457 OCT images were processed and graded, 236 OD and 221 OS. The baseline distribution of EZ grades was highly symmetrical between eyes (OD: I=8, II=33, III=2, IV=17, V=3; OS: I=8, II=32, III=2, IV=17, V=2). The average patient age was 23.01 years at the first visit and 25.99 at the last visit, with an average time between visits of 2.88 years for OD images and 2.56 years for OS images (range from 5 months to 10 years). A total of five eyes showed change in EZ grade (OD: n=3, OS: n=2) across follow-up from a grade II (EZ disruption) to grade IV (hyporeflective zone). These eyes belonged to three individuals (aged 24, 29, & 35 years), representing 4.76% of the total study group. The remaining 60 subjects, 95.24% of the total study group, retained the same EZ grade throughout the follow-up period.

Conclusions : ACHM appears to be a generally stable condition, at least over the follow-up period assessed here. Even with stable EZ appearance there may be other factors that impact the therapeutic potential of a given ACHM retina, which may change/progress over time.

This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.


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