June 2015
Volume 56, Issue 7
Free
ARVO Annual Meeting Abstract  |   June 2015
OPHTALMIC FEATURES OF SPINOCEREBELLAR ATAXIA TYPE 7: CORNEAL ENDOTHELIAL CELL DENSITY CORRELATES WITH ATAXIA RATE AND MUTATION LENGHT
Author Affiliations & Notes
  • Lucero Pedro Aguilar
    Cornea and Refractive Surgery Department, Inst Oftalmologia Conde Valenciana, Mexico, Mexico
  • Aurelio Campos-Romo
    Unidad Periferica Neurociencias, Inst Nacional Neurologia y Neurociencias, Mexico, Mexico
  • Julio C Hernandez
    Cornea and Refractive Surgery Department, Inst Oftalmologia Conde Valenciana, Mexico, Mexico
  • Victor Hugo Zuniga-Galvez
    Unidad Periferica Neurociencias, Inst Nacional Neurologia y Neurociencias, Mexico, Mexico
  • rosalinda diaz
    Unidad Periferica Neurociencias, Inst Nacional Neurologia y Neurociencias, Mexico, Mexico
  • Aida Jimenez-Corona
    Epidemiology, Inst Oftalmologia Conde Valenciana, Mexico, Mexico
  • David Rivera
    Retina, Inst Oftalmologia Conde Valenciana, Mexico, Mexico
  • Juan Fernandez-Ruiz
    Posgrado Neuroetologia, Universidad Veracruzana, Mexico, Mexico
  • Enrique O Graue
    Cornea and Refractive Surgery Department, Inst Oftalmologia Conde Valenciana, Mexico, Mexico
  • Footnotes
    Commercial Relationships Lucero Pedro Aguilar, None; Aurelio Campos-Romo, None; Julio Hernandez, None; Victor Zuniga-Galvez, None; rosalinda diaz, None; Aida Jimenez-Corona, None; David Rivera, None; Juan Fernandez-Ruiz, None; Enrique Graue, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2015, Vol.56, 1183. doi:
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      Lucero Pedro Aguilar, Aurelio Campos-Romo, Julio C Hernandez, Victor Hugo Zuniga-Galvez, rosalinda diaz, Aida Jimenez-Corona, David Rivera, Juan Fernandez-Ruiz, Enrique O Graue; OPHTALMIC FEATURES OF SPINOCEREBELLAR ATAXIA TYPE 7: CORNEAL ENDOTHELIAL CELL DENSITY CORRELATES WITH ATAXIA RATE AND MUTATION LENGHT. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):1183.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract
 
Purpose
 

To analyze the relation between ophthalmologic and motor changes in spinocerebellar ataxia type 7 (SCA7)

 
Methods
 

Design: Case series<br /> Participants: Sixteen SCA7 patients from the State of Veracruz, in Mexico.<br /> Methods: SCA7 patients underwent a comprehensive ophthalmic examination including uncorrected and corrected distance visual acuity, ocular extrinsic motility testing, slit-lamp biomicroscopy of the anterior segment, fundoscopy and measurement of intraocular pressure, color vision evaluation with Ishihara color plates, and optical coherence tomography (OCT) of the optic nerve and macula. Changes and alterations in the endothelium and in electroretinographic patterns were explored, and a complete neurologic evaluation using the Scale for the Assessment and Rating of Ataxia (SARA) was done as well.<br /> Main outcome measures: optical coherence tomography (OCT) findings of the optic nerve and macula, alterations in the endothelium and in electroretinographic patterns, and SARA scores.

 
Results
 

All patients showed various degrees of visual impairment mainly due to macular deterioration. Notably, they also presented decreased endothelial cell density (ECD).<br /> Pairwise correlations of ECD with number of CAG repeats and severity of motor symptoms quantified with the SARA scores were inverse (r=‒0.46, p=0.083 and r=‒64, p=0.009, respectively). Further analyses indicated an average ECD decrease of 48.4 (p=0.006) per unit of change on the number of CAG repeats, and of 74.6 (p=0.001) per unit of change on the SARA scores.

 
Conclusions
 

The results agree with previous ophthalmological findings regarding the widespread effect of SCA7 mutation on the patient’s visual system. However, the results also show a significant negative correlation of decreased ECD with both CAG repetitions and SARA scores. This suggests that motor systems degenerate in parallel with visual systems, although more research is needed to determine whether the degeneration is caused by the same mechanisms.  

 
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