Aggressive posterior retinopathy of prematurity and a TUBA1A mutation in de morsier syndrome

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

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

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 potenti-ated a severe ROP phenotype.

Original languageEnglish (US)
Pages (from-to)629-632
Number of pages4
JournalOphthalmic Surgery Lasers and Imaging Retina
Volume49
Issue number8
DOIs
StatePublished - Aug 1 2018

ASJC Scopus subject areas

  • Surgery
  • Ophthalmology

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