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Quantitative fundus autofluorescence and optical coherence tomography in bull’s-eye maculopathy

Session Details

Session Title: Imaging I

Session Date/Time: Friday 12/09/2014 | 11:00-13:00

Paper Time: 12:04

Venue: Boulevard D

First Author: : T.Duncker USA

Co Author(s): :    S. Tsang   W. Lee   J. Zernant   R. Allikmets   F. Delori   J. Sparrow

Abstract Details

Purpose:

Quantitative fundus autofluorescence (qAF) and spectral domain optical coherence tomography (SD-OCT) were performed in patients with Bull’s-Eye maculopathy (BEM) to identify phenotypic markers that can aid in the differentiation of ABCA4- and non-ABCA4-related disease.

Setting:

Prospective study in an academic referral center.

Methods:

37 BEM patients (age range: 8-60 years) were studied. All patients exhibited a localized macular lesion and qualitatively normal appearing surrounding retina without flecks. AF images (30°, 488 nm excitation) were acquired with a confocal scanning laser ophthalmoscope equipped with an internal fluorescent reference to account for variable laser power and detector sensitivity. The grey levels (GLs) from 8 circularly arranged segments positioned at an eccentricity of ~7°- 9° in each image were calibrated to the reference, zero GL, magnification, and normative optical media density, to yield qAF. In addition, horizontal SD-OCT images through the fovea were obtained. All patients were screened for ABCA4 mutations with the ABCR700 microarray and/or by next generation sequencing.

Results:

ABCA4 mutations were identified in 22 patients, who tended to be younger (mean age: 21.9 ±8.3 years) than patients without ABCA4 mutations (mean age: 42.1 ±14.9 years). Whereas phenotypic differences were not obvious on the basis of qualitative fundus AF and SD-OCT imaging, with qAF the 2 groups of patients were distinguishable. Thus 20/22 ABCA4-positive patients had qAF levels above the 95% confidence interval of healthy controls whereas 13/15 ABCA4-negative patients had qAF levels within the 95% confidence interval of healthy controls.

Conclusions:

The qAF method can differentiate between ABCA4- and non-ABCA4 related BEM and may guide genetic testing in a clinical setting.

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