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

Area of Science:

• Ophthalmology
• Genetics
• Neonatology

Background:

• VACTERL syndrome is a complex congenital disorder affecting multiple organ systems.
• Ocular abnormalities, including colobomas, can be associated with VACTERL syndrome.
• Early detection and characterization of ocular findings are crucial for management.

Purpose of the Study:

• To report a case of VACTERL syndrome with co-occurring iris and chorioretinal coloboma.
• To demonstrate the utility of ultra-widefield optical coherence tomography (UWF-OCT) in imaging and characterizing these colobomas.
• To highlight the potential association between colobomas and VACTERL syndrome.

Main Methods:

• An observational case report.
• Utilized an investigational ultra-widefield optical coherence tomography (UWF-OCT) device.
• Routine retinopathy of prematurity (ROP) screening was performed.

Main Results:

• A unilateral iridial and peripapillary chorioretinal coloboma was incidentally detected in an infant with VACTERL syndrome.
• UWF-OCT provided precise measurements of the coloboma depth (3.4 mm) and axial length (15.4 mm).
• The calculated excavation-to-axial-length ratio (0.22) suggests an elevated risk for future retinal detachment.

Conclusions:

• Iris and chorioretinal colobomas are potential manifestations of VACTERL syndrome.
• UWF-OCT is a valuable tool for the geometric characterization of colobomas.
• This characterization may aid in predicting and managing ocular complications.