Case:

We report a 21-year-old man with poor visual acuity at least since age 9, when he was noted to have marked optic nerve cupping and large optic discs. Glaucoma was suspected and treatment initiated. MRI brain at age 10 was normal. He presented to neuro-ophthalmology within our institution at age 13. His visual acuity was not correctable with refraction; Ishihara testing detected trouble discriminating colors; and intraocular pressures were normal (with no slit-lamp evidence of glaucoma). Fundoscopy revealed bilateral optic nerve atrophy and Bull’s-eye maculopathy. Optical coherence tomography measured symmetric retinal nerve fiber layers without focal thinning. Visual field testing detected bilateral central scotomas. Electroretinography measured a reduced cone response. Repeat MRI brain at age 17 visualized cerebellar and brainstem atrophy.

At age 20 he was referred to our department for gait and coordination difficulty. Exam revealed slow saccades, vertical nystagmus, ophthalmologist, scanned speech, appendicular ataxia and dysmetria, and a wide-based gait.

He had no known family history of ataxia or vision loss. Genetic SCA panel detected 58 CAG repeats in the ATXN7 gene, confirming the diagnosis of SCA7. Riluzole 50 mg twice daily was initiated, symptoms have continued to progress.