Figure 1

Pedigree, brain MRI and ophthalmologic findings. A: pedigree with affected individuals (blackened symbols) and individuals for which DNA analysis was performed (DNA). B: Axial FLAIR T2-weighted brain MRI at baseline showing bilateral vestibular nuclei lesions (upper row, arrows), their disappearance at follow-up (middle row) in association with the appearance of a lesion involving the left inferior colliculus (lower row, arrow). C: Humphrey visual fields (total deviation) of both eyes at baseline (T0) and follow-up (T1). A slight increase in mean deviation (MD) from T0 to T1 is reflected by shrinkage of the scotoma, with some improvement of the peripheral field sensitivity. D: optical coherence tomography showing diffuse optic atrophy in both eyes, with some preservation of the nasal quadrant in OS.