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

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 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 1 2018

ASJC Scopus subject areas

Surgery
Ophthalmology

Access to Document

10.3928/23258160-20180803-12

Fingerprint Dive into the research topics of 'Aggressive posterior retinopathy of prematurity and a TUBA1A mutation in de morsier syndrome'. Together they form a unique fingerprint.

Cite this

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.

In: Ophthalmic Surgery Lasers and Imaging Retina, Vol. 49, No. 8, 01.08.2018, p. 629-632.

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

@article{c05346192fc64cf9a737b1d4c5c06f54,

title = "Aggressive posterior retinopathy of prematurity and a TUBA1A mutation in de morsier syndrome",

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.",

author = "Reyes-Cap{\'o}, {Daniela P.} and Felix Chen and Benjamin Wilson and Brocha Tarshish and Ventura, {Camila V.} and Read, {Sarah P.} and Negron, {Catherin I.} and Audina Berrocal",

year = "2018",

month = aug,

day = "1",

doi = "10.3928/23258160-20180803-12",

language = "English (US)",

volume = "49",

pages = "629--632",

journal = "Ophthalmic Surgery Lasers and Imaging Retina",

issn = "2325-8160",

publisher = "Slack Incorporated",

number = "8",

}

TY - JOUR

T1 - Aggressive posterior retinopathy of prematurity and a TUBA1A mutation in de morsier syndrome

AU - Reyes-Capó, Daniela P.

AU - Chen, Felix

AU - Wilson, Benjamin

AU - Tarshish, Brocha

AU - Ventura, Camila V.

AU - Read, Sarah P.

AU - Negron, Catherin I.

AU - Berrocal, Audina

PY - 2018/8/1

Y1 - 2018/8/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85053006230&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85053006230&partnerID=8YFLogxK

U2 - 10.3928/23258160-20180803-12

DO - 10.3928/23258160-20180803-12

M3 - Article

C2 - 30114309

AN - SCOPUS:85053006230

VL - 49

SP - 629

EP - 632

JO - Ophthalmic Surgery Lasers and Imaging Retina

JF - Ophthalmic Surgery Lasers and Imaging Retina

SN - 2325-8160

IS - 8

ER -