Aggressive Posterior Retinopathy of Prematurity and a TUBA1A Mutation in de Morsier Syndrome

被引：3

作者：

Reyes-Capo, Daniela P. ^{[1
]}

Chen, Felix ^{[1
]}

Wilson, Benjamin ^{[1
]}

Tarshish, Brocha ^{[2
]}

Ventura, Camila V. ^{[3
]}

Read, Sarah P. ^{[3
]}

Negron, Catherin, I ^{[3
]}

Berrocal, Audina M. ^{[3
]}

机构：

[1] Univ Miami, Miller Sch Med, Miami, FL 33136 USA

[2] Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Dept Human Genet, Miami, FL 33136 USA

[3] Univ Miami, Miller Sch Med, Bascom Palmer Eye Inst, Dept Ophthalmol, Miami, FL 33136 USA

来源：

OPHTHALMIC SURGERY LASERS & IMAGING RETINA | 2018年 / 49卷 / 08期

关键词：

PERIPHERAL RETINAL NONPERFUSION; OPTIC-NERVE HYPOPLASIA;

D O I：

10.3928/23258160-20180803-12

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

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.

引用

页码：629 / 632

页数：4

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