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

doi:10.3928/23258160-20180803-12

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

Ophthalmic surgery, lasers & imaging retina - 1 Aug 2018

Reyes-Capó Daniela P, Chen Felix, Wilson Benjamin, Tarshish Brocha, Ventura Camila V, Read Sarah P, Negron Catherin I, Berrocal Audina M

Abstract excerpt

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...

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PMID: 30114309
DOI: 10.3928/23258160-20180803-12

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Source receipt: pubmed, retrieved 7 Sept 2026.