Faculty Collaboration Database

Longitudinal Assessment of OCT-Based Measures of Foveal Cone Structure in Achromatopsia. Invest Ophthalmol Vis Sci 2024 Apr 01;65(4):16

Date

04/08/2024

Pubmed ID

38587442

Pubmed Central ID

PMC11005076

DOI

10.1167/iovs.65.4.16

Scopus ID

2-s2.0-85190397639 (requires institutional sign-in at Scopus site)

Abstract

PURPOSE: Achromatopsia (ACHM) is an autosomal recessive retinal disease associated with reduced or absent cone function. There is debate regarding the extent to which cone structure shows progressive degeneration in patients with ACHM. Here, we used optical coherence tomography (OCT) images to evaluate outer nuclear layer (ONL) thickness and ellipsoid zone (EZ) integrity over time in individuals with ACHM.

METHODS: Sixty-three individuals with genetically confirmed ACHM with follow-up ranging from about 6 months to 10 years were imaged using either Bioptigen or Cirrus OCT. Foveal cone structure was evaluated by assessing EZ integrity and ONL thickness.

RESULTS: A total of 470 OCT images were graded, 243 OD and 227 OS. The baseline distribution of EZ grades was highly symmetrical between eyes (P = 0.99) and there was no significant interocular difference in baseline ONL thickness (P = 0.12). The EZ grade remained unchanged over the follow-up period for 60 of 63 individuals. Foveal ONL thickness showed a clinically significant change in only 1 of the 61 individuals analyzed, although detailed adaptive optics imaging revealed no changes in cone density in this individual.

CONCLUSIONS: ACHM appears to be a generally stable condition, at least over the follow-up period assessed here. As cones are the cellular targets for emerging gene therapies, stable EZ and ONL thickness demonstrate therapeutic potential for ACHM, although other aspects of the visual system need to be considered when determining the best timing for therapeutic intervention.

Author List

Grissim G, Walesa A, Follett HM, Higgins BP, Goetschel K, Heitkotter H, Carroll J

Author

Joseph J. Carroll PhD Director, Professor in the Ophthalmology and Visual Sciences department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Color Vision Defects
Fovea Centralis
Humans
Retina
Retinal Cone Photoreceptor Cells
Tomography, Optical Coherence