Autosomal dominant cerebellar ataxia is a rare heterogeneous group of diseases characterized by cerebellar symptoms, often associated with other multisystemic signs. Mild optic neuropathy has been associated with spinocerebellar ataxia type 1 (SCA1), but macular dysfunction has been reported in only 2 cases. We report the first family with SCA1 with several members affected by visual loss related to maculopathy.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2013, Vol 33, Issue 3, p. 225-31
Case Reports; Journal Article; Research Support, Non-U.S. Gov't