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 M. Berrocal

doi:10.3928/23258160-20180803-12

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 M. Berrocal

Research output: Contribution to journal › Article › peer-review

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 language	English (US)
Pages (from-to)	629-632
Number of pages	4
Journal	Ophthalmic Surgery Lasers and Imaging Retina
Volume	49
Issue number	8
DOIs	https://doi.org/10.3928/23258160-20180803-12
State	Published - Aug 2018

ASJC Scopus subject areas

Surgery
Ophthalmology

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10.3928/23258160-20180803-12

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Aggressive posterior retinopathy of prematurity and a TUBA1A mutation in de morsier syndrome. / Reyes-Capó, Daniela P.; Chen, Felix; Wilson, Benjamin; Tarshish, Brocha; Ventura, Camila V.; Read, Sarah P.; Negron, Catherin I.; Berrocal, Audina M.

In: Ophthalmic Surgery Lasers and Imaging Retina, Vol. 49, No. 8, 08.2018, p. 629-632.

Research output: Contribution to journal › Article › peer-review

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AU - Ventura, Camila V.

AU - Read, Sarah P.

AU - Negron, Catherin I.

AU - Berrocal, Audina M.

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

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