Coloboma associated with VACTERL characterized by Ultra-Widefield Optical Coherence Tomography
Coloboma associated with VACTERL characterized by Ultra-Widefield Optical Coherence Tomography

Coloboma associated with VACTERL characterized by Ultra-Widefield Optical Coherence Tomography

Retin Cases Brief Rep. 2026 Apr 10. doi: 10.1097/ICB.0000000000001798. Online ahead of print.

ABSTRACT

PURPOSE: To describe an infant with VACTERL syndrome with a concomitant iris and chorioretinal coloboma, imaged with ultra-widefield optical coherence tomography (UWF-OCT).

METHODS: Observational Case Report.

RESULTS: A 34-week-old infant underwent routine retinopathy of prematurity (ROP) screening in the neonatal intensive unit following admission for repair of a Type C tracheoesophageal fistula with esophageal atresia, as well as management of pelviectasis and low conus medullaris. During screening with an investigational UWF-OCT, she was incidentally found to have a, unilateral, iridial and peripapillary chorioretinal coloboma, and zone III, stage 0 ROP. The UWF-OCT measured the coloboma excavation depth of 3.4 mm and axial length of 15.4 mm, showing a relative excavation to axial-length ratio of 0.22, suggesting increased risk of future retinal detachment.

CONCLUSION: Colobomas may occur with VACTERL syndrome and can be geometrically characterized by UWF-OCT.

PMID:41961004 | DOI:10.1097/ICB.0000000000001798