Abstract
Purpose :
Optic disc coloboma is a rare congenital anomaly of the optic nerve. Only a few studies describing the OCT and the OCT-Angiography aspects of congenital optic disc anomalies have been published. The OCT-Angiography studies only descibed the small optic disc colobomas. This study mainly focuses on assessing the utility of OCT and OCT-Angiography in the particular setting of large optic disc coloboma.
Methods :
A retrospective study of patients who were referred to the department of pediatric retina at Bascom Palmer Eye Institute, Miami, Florida between January 2019 and January 2020.
Six eyes of 3 patients were identified. All patients were seen in the clinic and brought to the operating room for exam under anesthesia to perform a full ophthalmological exam, fundus photographs, fluorescein angiography, OCT and OCT-A using the Heidelberg Spectralis Flex Module. Then, necessary treatment was implemented as needed.
The OCT and OCT-A were performed by trained experienced photographers.
Results :
We provide multimodal imaging results of large optic disc coloboma in 3 children. The first case was associated with cat eye syndrome, the second case was associated with CHARGE syndrome (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities), and the third case was asssociated with branchio-oculo-facial syndrome. In all these cases, we were able to capture fundus photographs, fluorescein angiogrphy and OCT images. This allowed a proper evaluation of the coloboma, its associated complications and therefore, it helped establish appropriate management. However, the OCT-Angiography could not capture clear images of large nerve coloboma due to its depth.
Conclusions :
Large optic disc colobomas are more challenging than small optic disc colobomas. They are often associated with complications and require long term treatment management and follow up. While OCT has proven its utility in monitoring choroidal neovascularisation and retinoschisis that could be associated with optic disc colobloma, OCT-Angiography in its current form is unable to capture large opitc disc coloboma and therefore is of limited interest.
This is a 2021 ARVO Annual Meeting abstract.