Aggressive Posterior Retinopathy of Prematurity and a TUBA1A Mutation inde Morsier Syndrome
2018
: 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.].
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