Arcuate pattern of retinal ganglion cell axons in oculocutaneous albinism has implications for axon pathfinding

Abstract

Humans have a characteristic arcuate pattern of retinal ganglion cell (RGC) axons on the retina, indicating an unknown axon-repellent factor in the macula during development. This arcuate pattern has implications for diseases such as glaucoma. Albinism is an interesting group of conditions with loss of the radial foveal architecture (foveal hypoplasia) and abnormal RGC axon pathfinding at the optic chiasm. Here, we achieved optical coherence tomography imaging in a patient with oculocutaneous albinism type 1 (OCA1), which is challenging due to nystagmus. These scans showed a normal pattern of arcuate ganglion cells despite a severely hypoplastic fovea. This implies that there are multiple factors contributing to the radial pattern of the fovea and arcuate pattern of RGC axons, but OCA1 does not affect the latter.

Keywords: Genetics; Glaucoma; Neuroopthalmology; Retina; Visual pathway.