Best macular dystrophy (BMD) is an autosomal dominant macular dystrophy of childhood onset characterized by bilateral and symmetric vitelliform lesions. Several stages of disease have been well-described in the literature. Choroidal neovascularization (CNV) has traditionally been considered a hallmark of end-stage disease, and anti-vascular endothelial growth factor (anti-VEGF) agents have been used to improve visual prognosis. While CNV was historically detected with fluorescein angiography, optical coherence tomography angiography (OCTA) has recently been employed as a novel mechanism for identifying CNV in BMD. In this case series, we discuss our institutional experience with using OCTA to detect CNV in BMD and contextualize this experience within the broader emerging literature. While OCTA allows for the identification of CNV in less severe stages of BMD, the management of this CNV remains uncertain.

The aim of this case presentation is to describe ocular findings of a 22-year-old patient with Best vitelliform macular dystrophy accompanied by pachychoroid neovasculopathy. Color fundus photography, fundus autofluorescence (FAF), optical coherence tomography (OCT), and optical coherence tomography angiography (OCTA) images were reviewed. Funduscopic examination showed bilateral yellowish vitelliform-like submacular deposits. FAF revealed these deposits as hyperautofluorescent spots. OCT showed flat irregular pigment epithelial detachments corresponding to these submacular deposits. OCT showed choroidal thickening and dilatation of the large outer oval choroidal vessels. Fundus fluorescein angiography could not be performed because the patient was pregnant. En face OCTA images of the choriocapillaris illustrated the choroidal neovascular network. In this case report, we describe for the first time the coexistence of Best vitelliform macular dystrophy and pachychoroid neovasculopathy with OCTA images enabling visualization of the neovascular network in a patient with contraindication for fluorescein angiography.

UNASSIGNED: To report the association of optic nerve head (ONH) drusen with Best vitelliform macular dystrophy (BVMD).
UNASSIGNED: Chart review.
UNASSIGNED: Five patients from 3 families.
UNASSIGNED: Multimodal imaging and ophthalmic examination demonstrated findings consistent with ONH drusen, in association with BVMD, in 5 patients.
UNASSIGNED: We report the association of BVMD with ONH drusen in 5 patients. This combination has previously been reported only once. We recommend that patients with a diagnosis of BVMD undergo autofluorescence and ultrasound imaging of the optic nerve to help facilitate this diagnosis, as some ONH drusen can be buried.