Visual loss as the presenting sign in spinocerebellar ataxia type 7 (SCA7)

A 22-year-old woman (index case) presented at the department of ophthalmology with progressive visual loss for the past 3 years. Ophthalmological examination revealed a visual acuity of 20/100 in each eye. At funduscopy, a dull macular reflex was noted. Family history revealed spinocerebellar ataxia type 7 (SCA7) in three generations. We describe the ophthalmological findings in this family. Insidious visual problems can be the presenting sign of spinocerebellar ataxia type 7. In examining a negative family history, the diagnosis can be very difficult.