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) |
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Pages (from-to) | 629-632 |
Number of pages | 4 |
Journal | Ophthalmic Surgery Lasers and Imaging Retina |
Volume | 49 |
Issue number | 8 |
DOIs | |
State | Published - Aug 2018 |
ASJC Scopus subject areas
- Surgery
- Ophthalmology