title: Ophthalmic features of Friedreich ataxia.
abstract: OBJECTIVE
  To describe ocular abnormalities in patients with Friedreich ataxia (FRDA).
  
  
  METHODS
  Patients diagnosed with FRDA by genetic analysis were invited to participate in a prospective cohort. The patients included underwent an extensive ophthalmologic examination, including low-contrast Sloan letter charts test and retinal nerve fiber layer (RNFL) thickness analysis by optical coherence tomography (OCT).
  
  
  RESULTS
  Twenty-three patients agreed to participate. In all, 19 patients (83%) had a visual acuity of at least 0.8 in both eyes. Fundus examination showed diffuse optic nerve pallor in four patients. However, OCT showed a decreased mean peripapillary RNFL thickness in all but three adult cases and one teenager. The RNFL thickness was found to have a positive correlation with visual acuity (P=0.001) and contrast sensitivity (P=0.001) and a negative correlation with time elapsed from diagnosis (P=0.001).
  
  
  CONCLUSIONS
  OCT and low contrast test sensitivity show that the visual pathway is affected in FRDA. However, in most patients there is no significant visual impairment. In a small proportion of patients visual acuity declines with disease progression. This study provides a better understanding of the ophthalmic features of FRDA.
authors.affiliation: Ophthalmology Department, Hospital La Paz/Autónoma University School of Medicine, IdiPAZ, Madrid, Spain. sunoval@gmail.com
authors.forename: S
authors.initials: S
authors.lastname: Noval
authors.forename: I
authors.initials: I
authors.lastname: Contreras
authors.forename: I
authors.initials: I
authors.lastname: Sanz-Gallego
authors.forename: R K
authors.initials: RK
authors.lastname: Manrique
authors.forename: J
authors.initials: J
authors.lastname: Arpa
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D015350:Contrast Sensitivity / Q000502:physiology*; D005260:Female; D005621:Friedreich Ataxia / Q000150:complications / Q000503:physiopathology*; D006801:Humans; D008297:Male; D009412:Nerve Fibers / Q000473:pathology*; D011446:Prospective Studies; D012044:Regression Analysis; D012165:Retinal Ganglion Cells / Q000473:pathology*; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology*; D055815:Young Adult
references.citation: Arch Ophthalmol. 2003 Nov;121(11):1582-5
references.pmid: 14609915
references.citation: Mov Disord. 2009 Sep 15;24(12):1779-84
references.pmid: 19562766
references.citation: Brain. 2008 Apr;131(Pt 4):1035-45
references.pmid: 18238798
references.citation: Mov Disord. 2010 Mar 15;25(4):426-32
references.pmid: 20063431
references.citation: Biochim Biophys Acta. 2009 May;1787(5):518-28
references.pmid: 19268652
references.citation: Invest Ophthalmol Vis Sci. 2005 Jun;46(6):2225-9
references.pmid: 15914645
references.citation: Brain. 2009 Jan;132(Pt 1):116-23
references.pmid: 18931386
references.citation: Am J Ophthalmol. 1978 Mar;85(3):400-6
references.pmid: 655219
references.citation: J Neurol. 2009 Mar;256 Suppl 1:36-41
references.pmid: 19283349
references.citation: J Neurol Neurosurg Psychiatry. 2007 Apr;78(4):411-3
references.pmid: 17056635
references.citation: Can J Neurol Sci. 1979 May;6(2):167-72
references.pmid: 487305
references.citation: J Neurol. 1995 Aug;242(8):517-21
references.pmid: 8530980
references.citation: Nat Genet. 1997 Aug;16(4):345-51
references.pmid: 9241270
references.citation: Cerebellum. 2010 Sep;9(3):411-8
references.pmid: 20467851
references.citation: Arch Ophthalmol. 2009 Jan;127(1):50-8
references.pmid: 19139338
references.citation: Can J Neurol Sci. 1984 Nov;11(4 Suppl):570-3
references.pmid: 6509404
references.citation: J Neuroophthalmol. 2001 Dec;21(4):296-301
references.pmid: 11756863
references.citation: Neurology. 2006 Jun 13;66(11):1711-6
references.pmid: 16769945
references.citation: J Neuroophthalmol. 2002 Dec;22(4):270-4
references.pmid: 12464730
references.citation: Ophthalmology. 2006 Feb;113(2):324-32
references.pmid: 16406539
references.citation: Arch Neurol. 1983 Jun;40(6):343-6
references.pmid: 6847438