Related Experiment Video
Updated: Mar 16, 2026
Quantitative Fundus Autofluorescence for the Evaluation of Retinal Diseases
Published on: March 11, 2016
FUNDUS AUTOFLUORESCENCE IN A SUBCLINICAL CASE OF BEST DISEASE
Etienne M Schönbach1, Hendrik P Scholl
1Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Purpose:
To demonstrate the usefulness of fundus autofluorescence for diagnosing a subclinical case of Best disease.
Results:
We describe a 27-year-old white woman without central visual symptoms, visual acuity of 20/12 in both eyes, carrying the previously reported p.Tyr227Cys mutation in the BEST1 gene. Although electrooculography, microperimetry (MP-1), and spectral-domain optical coherence tomography did not reveal unequivocal pathology, fundus autofluorescence imaging allowed to clearly detect a phenotypic correlate of Best disease, namely small areas of significantly increased fundus autofluorescence signals.
Conclusion:
This report suggests that in selected subclinical cases, fundus autofluorescence may be more sensitive than the MP-1 and spectral-domain optical coherence tomography in the detection of subclinical cases of BEST1-associated retinopathy.
