To report a long-term (15 years) follow-up of a patient with a rare congenital ophthalmological disorder known as Traboulsi syndrome. It is characterized by ectopia lentis, congenital blebs, and facial dysmorphism. A 25-year-old female was identified with Traboulsi syndrome based on the typical facial, ocular features, and literature evidence. Serial anterior segment optical coherence tomography (ASOCT) and ultrasound biomicroscopy (UBM) were done to document the anterior segment. This case report discusses the clinical aspects of the syndrome such as its long-term sequelae, complications, and management outcomes.
Nat. Genet. 47, 387–392 (2015); published online 23 February 2015; corrected online 9 March 2015; corrected after print 27 April 2015 In the version of this article initially published, the name of author Afsaneh Naderi Beni was misspelled. The error has been corrected in the HTML and PDF versions of the article.