REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA

Overview

Journal Retina

Date 2017 Feb 2

PMID 28145975

Citations 41

Authors

Christopher S Langlo

Laura R Erker

Maria Parker

Emily J Patterson

Brian P Higgins

Phyllis Summerfelt

Moataz M Razeen

Frederick T Collison

Gerald A Fishman

Christine N Kay

Jing Zhang

Richard G Weleber

Paul Yang

Mark E Pennesi

Byron L Lam

Jeffrey D Chulay

Alfredo Dubra

William W Hauswirth

David J Wilson

Joseph Carroll

Affiliations

Soon will be listed here.

Abstract

Purpose: Congenital achromatopsia is an autosomal recessive disease causing substantial reduction or complete absence of cone function. Although believed to be a relatively stationary disorder, questions remain regarding the stability of cone structure over time. In this study, the authors sought to assess the repeatability of and examine longitudinal changes in measurements of central cone structure in patients with achromatopsia.

Methods: Forty-one subjects with CNGB3-associated achromatopsia were imaged over a period of between 6 and 26 months using optical coherence tomography and adaptive optics scanning light ophthalmoscopy. Outer nuclear layer (ONL) thickness, ellipsoid zone (EZ) disruption, and peak foveal cone density were assessed.

Results: ONL thickness increased slightly compared with baseline (0.184 μm/month, P = 0.02). The EZ grade remained unchanged for 34/41 subjects. Peak foveal cone density did not significantly change over time (mean change 1% per 6 months, P = 0.126).

Conclusion: Foveal cone structure showed little or no change in this group of subjects with CNGB3-associated achromatopsia. Over the time scales investigated (6-26 months), achromatopsia seems to be a structurally stable condition, although longer-term follow-up is needed. These data will be useful in assessing foveal cone structure after therapeutic intervention.

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