Inherited Retinal Disease as a Predisposing Factor for Paclitaxel Maculopathy

Abstract

Purpose: To describe 3 cases of angiographically silent cystoid macular edema (CME) associated with paclitaxel therapy in patients with clinical or genetic features suggestive of an underlying inherited retinal disease (IRD). Methods: A series of 3 patients was reviewed. Results: All 3 patients presented with decreased vision and bilateral, angiographically silent CME shortly after starting paclitaxel. Clinical findings in each case raised suspicion of a concurrent IRD. Genetic testing revealed a pathogenic mutation in the NR2E3 gene, consistent with enhanced S-cone syndrome in 1 patient, several variants of uncertain significance in LRP2 and RBP3 in another, and a heterozygous pathogenic mutation in PEX1, associated with peroxisome biogenesis disorders, in the third. Discontinuation of paclitaxel and initiation of various local and systemic therapies, including carbonic-anhydrase inhibitors and steroids, resulted in improvement or resolution of CME and improved visual acuity in all patients. Conclusions: This series suggests that patients with underlying or suspected IRD may be predisposed to developing CME upon initiation of paclitaxel therapy. Further investigation is warranted to better understand this potential susceptibility and to guide management in at-risk individuals.