Choroidal Neovascularization is Common in Best Vitelliform Macular Dystrophy and Plays a Role in Vitelliform Lesion Evolution.

OBJECTIVE: Choroidal neovascularization (CNV) is usually considered to be a late-stage complication in Best vitelliform macular dystrophy (BVMD) and can be difficult to diagnose with fluorescein angiography. This study used swept-source optical coherence tomography angiography (SS-OCTA) to evaluate the prevalence of CNV in BVMD, identify structural features associated with CNV, and provide insight into the role of CNV in vitelliform lesion evolution.

DESIGN: Institutional review board-approved, retrospective, cross-sectional and longitudinal study.

PARTICIPANTS: Patients with molecularly-confirmed BVMD.

METHODS: Charts from consecutive BVMD patients imaged with SS-OCTA (PLEX Elite 9000, Carl-Zeiss Meditec Inc, Dublin, California) at the University of Iowa from September 2017 to October 2021 were reviewed. Clinical data including age, gender, best-corrected visual acuity (BCVA), and treatment with intravitreal anti-vascular endothelial growth factor (VEGF) injections were recorded. The presence of CNV on SS-OCTA was determined by expert graders and correlated to structural features such as interstitial fluid, subretinal fluid, nodular subretinal pillar, focal choroidal excavation and subfoveal choroidal thickness, with a P-value <0.05 considered statistically significant.

MAIN OUTCOME MEASURES: Presence of CNV on SS-OCTA and correlation with structural features on SS-OCT.

RESULTS: A total of 53 eyes from 27 patients (13 female; 48.1%) were included. The mean age was 45 years (range 8-79), and mean LogMAR BCVA was 0.38 (range 0-1). CNV was identified on SS-OCTA in 27 eyes (50.9%), of which 63.0% had a vitelliform (Gass stage 2) lesion. In 40.7% (11/27) of eyes, there was no prior clinical diagnosis of CNV. Other structural features associated with CNV included focal choroidal excavations (15.1%, 8/53 eyes) and nodular pillars (15.1%, 8/53 eyes) (p<0.01). Seven patients had available longitudinal imaging, and most of these patients had CNV visible on SS-OCTA (71.4%; 10/14 eyes).

CONCLUSIONS: CNV is common in BVMD, including in early stages of the disease. The presence of focal choroidal excavations or nodular pillars should heighten clinical suspicion for the CNV, which may accelerate vitelliform lesion evolution.