Aggressive Posterior Retinopathy of Prematurity and a TUBA1A Mutation inde Morsier Syndrome

The authors report a case of a premature male neonate born at 25.3 weeks gestational age weighing 605 grams with septo-optic dysplasia (SOD) and a heterozygous mutation in TUBA1A c.715A>C, a critical gene for microtubules, who developed asymmetric and aggressive posterior retinopathy of prematurity (ROP). This report presents a novel mutation associated with SOD and proposes that optic nerve hypoplasia may have potentiated a severe ROP phenotype. [ Ophthalmic Surg Lasers Imaging Retina . 2018;49:629–632.]