title: Ophthalmic features of spinocerebellar ataxia type 7.
abstract: BACKGROUND
  Patients with spinocerebellar ataxia 7 (SCA7) are known to develop ocular abnormalities. The purpose of this study was to characterize these abnormalities in greater detail and with the aid of newer quantitative technologies.
  
  
  METHODS
  Seven patients with SCA7 diagnosed by genetic analysis at La Paz Hospital (Madrid, Spain), a country-wide referral center for ataxias, were included in the study. Demographic data and ocular features were recorded from a complete ophthalmologic examination, specular microscopy, corneal topography (Pentacam), and optical coherence tomography (OCT).
  
  
  RESULTS
  All 7 patients had decreased visual acuity associated with varying degrees of macular pigmentary changes on ophthalmoscopy. All 7 had lower corneal endothelial cell densities than expected for their age, and 5 had increased corneal volume, although none had corneal edema. Patients with mild disease showed retinal thinning at the fovea. In patients with more advanced disease, retinal thinning was present also in the outer zone of the macula. Mean peripapillary retinal nerve fiber layer thickness was decreased in all patients; however, the temporal quadrant was spared except in advanced disease.
  
  
  CONCLUSIONS
  This study of 7 patients with SCA7 amplifies previous reports of ophthalmic abnormalities in this condition by providing data from specular microscopy, corneal topography, and OCT. Abnormalities were present in the anterior and posterior ocular segments, as well as in eye movements and pupillary reactions. Visual dysfunction, present in all patients, was associated with retinal thinning. Decreased endothelial cell density and increased corneal thickness were common.
authors.affiliation: Department of Ophthalmology, La Paz Hospital, Madrid, Spain.
authors.forename: Roslyn K
authors.initials: RK
authors.lastname: Manrique
authors.forename: Susana
authors.initials: S
authors.lastname: Noval
authors.forename: María J
authors.initials: MJ
authors.lastname: Aguilar-Amat
authors.forename: Javier
authors.initials: J
authors.lastname: Arpa
authors.forename: Irene
authors.initials: I
authors.lastname: Rosa
authors.forename: Inés
authors.initials: I
authors.lastname: Contreras
mesh_terms: D000328:Adult; D000368:Aged; D003315:Cornea / Q000002:abnormalities / Q000473:pathology / Q000503:physiopathology; D042783:Endothelial Cells / Q000473:pathology; D005124:Eye Abnormalities / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D015785:Eye Diseases, Hereditary / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008266:Macula Lutea / Q000002:abnormalities / Q000473:pathology / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D012160:Retina / Q000002:abnormalities / Q000473:pathology / Q000503:physiopathology; D020754:Spinocerebellar Ataxias / Q000150:complications* / Q000235:genetics; D015354:Vision, Low / Q000235:genetics / Q000473:pathology / Q000503:physiopathology