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.