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Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy. Invest Ophthalmol Vis Sci 2014 Mar 13;55(3):1471-82



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PURPOSE: Quantitative fundus autofluorescence (qAF), spectral domain optical coherence tomography (SD-OCT) segmentation, and multimodal imaging were performed to elucidate the pathogenesis of Best vitelliform macular dystrophy (BVMD) and to identify abnormalities in lesion versus nonlesion fundus areas.

METHODS: Sixteen patients with a clinical diagnosis of BVMD were studied. Autofluorescence 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) of each image were calibrated to the reference, zero GL, magnification, and normative optical media density, to yield qAF. Horizontal SD-OCT scans were obtained and retinal layers manually segmented. Additionally, color and near-infrared reflectance (NIR-R) images were registered to AF images. All patients were screened for mutations in BEST1. In three additional BVMD patients, in vivo spectrofluorometric measurements were obtained within the vitelliform lesion.

RESULTS: Mean nonlesion qAF was within normal limits for age. Maximum qAF within the lesion was markedly increased compared with controls. By SD-OCT segmentation, outer segment equivalent thickness was increased and outer nuclear layer thickness decreased in the lesion. Changes were also present in a transition zone beyond the lesion border. In subclinical patients, no abnormalities in retinal layer thickness were identified. Fluorescence spectra recorded from the vitelliform lesion were consistent with those of retinal pigment epithelial cell lipofuscin.

CONCLUSIONS: Based on qAF, mutations in BEST1 do not cause increased lipofuscin levels in nonlesion fundus areas.

Author List

Duncker T, Greenberg JP, Ramachandran R, Hood DC, Smith RT, Hirose T, Woods RL, Tsang SH, Delori FC, Sparrow JR


Jonathan P. Greenberg MD Instructor in the Ophthalmology and Visual Sciences department at Medical College of Wisconsin

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

Diagnosis, Differential
Fluorescein Angiography
Fundus Oculi
Middle Aged
Retinal Pigment Epithelium
Tomography, Optical Coherence
Vitelliform Macular Dystrophy
Young Adult
jenkins-FCD Prod-409 d1e206b0be345926047b0d9c353c78a4cce4058b