April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Autofluorescence Findings Of A Novel Maculopathy In Patient With Spinocerebellar Ataxia Type 1 And Of A Cone - Rod Type Retinal Dysfunction In Three Generation Family With Spinocerebellar Ataxia Type 7
Author Affiliations & Notes
  • Veronika Vaclavik
    Hospital Optalmique Jules Gonin, Lausanne, Switzerland
  • Francis L. Munier
    Ophthalmology Department, Hopital Ophtalmique Jules Gonin, Lausanne, Switzerland
  • Daniel F. Schorderet
    Ophthalmology, IRO-Institute for Research in Ophthalmology, Sion, Switzerland
  • Francois-Xavier Borruat
    Hospital Optalmique Jules Gonin, Lausanne, Switzerland
  • Footnotes
    Commercial Relationships  Veronika Vaclavik, None; Francis L. Munier, None; Daniel F. Schorderet, None; Francois-Xavier Borruat, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 2993. doi:
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      Veronika Vaclavik, Francis L. Munier, Daniel F. Schorderet, Francois-Xavier Borruat; Autofluorescence Findings Of A Novel Maculopathy In Patient With Spinocerebellar Ataxia Type 1 And Of A Cone - Rod Type Retinal Dysfunction In Three Generation Family With Spinocerebellar Ataxia Type 7. Invest. Ophthalmol. Vis. Sci. 2011;52(14):2993.

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

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Abstract

Purpose: : To report a novel maculopathy in a patient with SCA1. To describe autofluorescence findings in family with SCA7 and associated cone-rod retinal dysfunction.

Methods: : 4 affected patients from two families were assessed to investigate a progressive loss of visual acuity (VA). Examinations included fundus photography, autofluorescence (AF) fundus fluorescein angiogragraphy (FFA) and optical coherence tomography. Electroretinogram (full-field) was performed in 2 affected patients. All patients had color vision testing using Ishihara pseudoisochromatic plates. Molecular analysis was performed in family 2.

Results: : The patient with known diagnosis of SCA1 had a visual acuity of 20/200 bilaterally and dyschromatopsia. He had saccadic pursuit. Fundus examination showed mild retinal pigment epithelium (RPE) changes at the macula. OCT showed bilateral macular serous detachment, which was not obvious at the FFA and explained his VA. AF imaging showed a central hyperfluorescence. The 45 year old proband from family 2 had a visual acuity of 200/20 and dyschromatopsia. ERG testing showed cone type dysfunction of photoreceptors. Her daughter affected at a younger age had the same ERGs findings. Fundus examination showed mild RPE changes in proband, normal findings in her daughter. AF imaging of both patients showed a ring of high density AF around the fovea. The ring was also obvious on near infrared AF. Later onset of gait imbalance led to the diagnosis of SCA7

Conclusions: : Within the group of spinocerebellar ataxias, only the type 7 is associated with retinal dysfunction. We present the first report of maculopathy associated with SCA1 causing severe vision loss. The ring of high density AF in SCA7 confirmed an early retinal photoreceptor dysfunction in patient with normal fundus.

Keywords: retinal degenerations: hereditary • imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound) • macula/fovea 
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