Purpose: Choroideremia (CHM) is an X-linked recessive form of hereditary retinal degeneration, which, at advanced stages, leaves only small central islands of preserved retinal tissue. Unlike many other retinal diseases, the spared tissue in CHM supports excellent central vision and stable fixation. Such spared topography in CHM presents an ideal platform to explore the relationship between preserved central retinal structure and the retinotopic organization of visual cortex by using functional magnetic resonance imaging (fMRI).
Methods: fMRI was conducted in four participants with CHM and four healthy control participants while they viewed drifting contrast pattern stimuli monocularly. A single ∼3-minute fMRI run was collected for each eye separately. fMRI data were analyzed using the population receptive field (pRF) modeling approach. Participants also underwent ophthalmic evaluations of visual acuity and static automatic perimetry.
Results: The spatial distribution and strength of pRF estimates correlated positively and significantly with clinical outcome measures in most participants with CHM. Importantly, the positive relationship between clinical and pRF measurements increased with increasing disease progression. A less consistent relationship was observed for control participants.
Conclusions: Although reflecting only a small sample size, clinical evaluations of visual function in participants with CHM were well characterized by the spatial distribution and strength of pRF estimates by using a single ∼3-minute fMRI experiment. fMRI data analyzed with pRF modeling may be an efficient and objective outcome measure to complement current ophthalmic evaluations. Specifically, pRF modeling may be a feasible approach for evaluating the impact of interventions to restore visual function.