Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes

Br J Ophthalmol. 2014 May;98(5):711-3. doi: 10.1136/bjophthalmol-2013-304534. Epub 2014 Jan 23.
No abstract available

Keywords: Genetics; Optic Nerve.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Female
  • Heat-Shock Proteins / genetics*
  • Humans
  • Male
  • Middle Aged
  • Muscle Spasticity / genetics*
  • Muscle Spasticity / pathology*
  • Phenotype
  • Retina / pathology*
  • Retinal Diseases / genetics*
  • Retinal Diseases / pathology*
  • Spinocerebellar Ataxias / congenital*
  • Spinocerebellar Ataxias / genetics
  • Spinocerebellar Ataxias / pathology

Substances

  • Heat-Shock Proteins
  • SACS protein, human

Supplementary concepts

  • Spastic ataxia Charlevoix-Saguenay type