Retinal injury identified by overhead-mounted optical coherence tomography in two young children with infantile-onset...

To report and characterize unexpected retinal findings identified by imaging with overhead-mounted optical coherence tomography (OCT) in 2 young children with infantile-onset glaucoma.

Children with glaucoma were imaged during clinically indicated examinations under anesthesia using overhead-mounted HRA+OCT Spectralis with Flex module (Flex-OCT, Heidelberg, Germany) from February 2017 through February 2022. Imagers prioritized scans of the peripapillary retinal nerve fiber layer (pRNFL), optic nerve head, and macula. Children imaged before age 2 years with images adequate for evaluation were included. Age at glaucoma diagnosis, glaucoma type, highest intraocular pressure (IOP), corneal diameter (CD), and axial length (AL) were recorded.

A total of 41 children (71 eyes with glaucoma) were imaged before age 2 years. Macular imaging identified both inner and outer retinal thinning in 3 eyes of 2 young children (both eyes of a child with newborn primary congenital glaucoma (PCG) and 1 eye of a child with glaucoma following cataract surgery), which remained stable over time. These findings were present in 2 of 41 children (4.9%) and 3 of 71 eyes (4.2%) imaged with Flex-OCT. Neither highest IOP, CD, nor AL at imaging differentiated the 3 eyes with retinal changes from the larger group.

Three eyes of 2 young children with refractory glaucoma of different etiologies and highly elevated IOP demonstrated areas of inner and outer retinal thinning, consistent with retinal injury from probable prior macular ischemia. Unexpected retinal pathology identified on Flex-OCT imaging in infantile-onset glaucomas highlights the need for continued study of the pathophysiology of this disease.