Sex-dependent variations of retinal function and architecture in a neurofibromatosis type I mouse model with normal vision.

Abstract

We aimed to characterize the structure and function of the early visual system of the neurofibromatosis type 1 (NF1) mouse model, a syndromic model of autism spectrum disorders (ASD). We used Nf1mice and WT littermates and performed retinal structural analysis by optical coherence tomography (OCT), and functional assessment by electrophysiological recordings. We then performed behavioral visual tests using optomotor response (OMR) and sensitivity to visual stimulus familiarity. From the structural analysis, we found increased thickness for ganglion cell layer-inner plexiform layer (GCL-IPL) and outer nuclear layer (ONL) in male Nf1mice compared with WT littermates. Regarding retinal electrophysiology, female Nf1mice exhibited increased amplitudes for the second oscillatory potential (OP2) compared with WT littermates. Nevertheless, both Nf1and WT mice presented normal visual acuity as measured by OMR and were able to exhibit regular visual stimulus familiarity responses. While structural sex-dependent changes are in line with previous results for brain anatomic measures, the subtle sex-dependent changes in oscillatory activity may relate to GABAergic neurotransmission changes found in NF1. Overall, these structural and functional changes do not seem to translate into visual behavioral alterations.