Purpose: To investigate and integrate the photographic, angiographic, and tomographic findings from a group of patients with various stages of vitelliform macular dystrophy type 2 (VMD2; also known as Best's disease) and use this information to propose mechanisms of disease pathogenesis.
Design: Retrospective observational case series.
Participants: Nine consecutive patients seen in a private practice referral setting by the authors.
Methods: Patients with VMD2 were imaged with conventional fundus and autofluorescence photography, fluorescein angiography, fundus photography, and optical coherence tomography (OCT).
Main outcome measures: The integrated ocular imaging findings.
Results: Early stage lesions were smaller and had accumulation of yellowish material in the central macula. This material was highly autofluorescent and appeared to be located on the outer retinal surface by OCT. Later stages were characterized by larger lesions with central clearing of the yellowish material and deposition of autofluorescent subretinal material at the outer borders of the lesion. Both early and late lesions had a subretinal fluid component with no reflectivity as detected by OCT. Fluorescein angiography showed transmission defects with a suggestion of late leakage, much like that seen in chronic central serous chorioretinopathy (CSC).
Conclusions: Similar to that seen in CSC, patients with VMD2 have an accumulation of material on the outer retina, which may represent shed photoreceptor outer segments in association with subretinal fluid.