Responsiveness of Choroidal Neovascular Membranes in Patients With R345W Mutation in Fibulin 3 (Doyne Honeycomb Retinal Dystrophy) to Anti–Vascular Endothelial Growth Factor Therapy

Doyne honeycomb retinal dystrophy (DHRD), malattia leventinese, and dominant radial drusen are allelic conditions that typically present with maculopathy of early age and autofluorescent drusen in the posterior pole with late hyperpigmentation and atrophy of the retinal pigment epithelium (RPE).¹ These conditions are caused by a single R345W mutation in the gene encoding epidermal growth factor–containing fibrillin-like extracellular matrix protein 1 (EFEMP1),² also known as fibulin 3. Development of choroidal neovascularization (CNV) is an uncommon but known sight-threatening complication¹ for which the only recently reported intervention for this condition—vitrectomy and subretinal membrane removal³—requires complex surgery. Because of phenotypic similarities but pathophysiologic differences to age-related macular degeneration, we sought to determine the effects of intravitreal treatment with bevacizumab in patients with DHRD.