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.
|Tidsskrift||Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society|
|Status||Udgivet - sep. 2013|