Lebranchu, Pierre2; Le Meur, Guylène3; Magot, Armelle3; David, Albert3; Verny, Christophe3; Weber, Michel Samuel4; Milea, Dan1
1 Øjenklinikken, HovedOrtoCentret Rigshospitalet, Rigshospitalet, The Capital Region of Denmark2 Department of Ophthalmology, Nantes University Hospital, Nantes, France. firstname.lastname@example.org unknown4 Statskundskab studienævn
a new association?
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