Coats-like vasculopathy in the setting of PRPH2-associated multifocal macular pattern dystrophy

INTRODUCTION: Coats-like vasculopathy (CLV) presents with retinal telangiectasias and exudative retinopathy. Unlike classic Coats disease, CLV is associated with inherited retinal diseases (IRDs). Over 30 genes and multiple IRDs have been reported in association with CLV. However, CLV has not previously been described in macular pattern dystrophies (MPD) in the setting of peripherin-2 (PRPH2) mutations. METHODS: Case Report. RESULTS: We present three unrelated patients who were found to have CLV in the setting of MPD with genetically confirmed variants in PRPH2: c.828 + 3A > T, c.629C > G (p. Pro210Arg), and c.771_772delinsGA (p. Tyr257*). DISCUSSION: These three cases expand the genotypic and phenotypic spectrum of CLV. Patients with PRPH2 variants and MPD should be monitored for development of CLV and its complications, including cystoid macular edema and exudative retinal detachment, to allow early detection and timely management.