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High-definition spectral domain optical coherence tomography in the evaluation of ataxia with visual impairment
  1. N Kumar1,
  2. J S Pulido2
  1. 1Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA
  2. 2Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA
  1. Correspondence to Neeraj Kumar, Department of Neurology, Mayo Clinic Bldg E-8 A, 200 First Street SW, Rochester, MN 55905 USA; kumar.neeraj{at}mayo.edu

https://doi.org/10.1136/bjo.2009.162586

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    A 36-year-old man was evaluated for a 10-year history of visual decline and 5-year history of gait, limb, and speech ataxia. His neurologic exam was remarkable for a wide based ataxic gait with appendicular, axial and speech ataxia. His eye exam revealed saccadic pursuits and reduced visual acuity. Ophthalmoscopic evaluation of the fundus was remarkable for diffuse attenuation of the arterioles and minimal foveal fine pigmentary mottling. A full-field electroretinogram revealed abnormalities that tended to be more prominent in cone-mediated responses. Visual field assessment showed increased blind spot and a left pericentral scotoma. Fluorescein angiography showed a small central window defect in the macula (figure 1A). High-definition spectral domain optical coherence tomography showed the reason for the reduced visual acuity (figure 1B).

    Figure 1

    (A) Fluorescein angiography shows a small central window defect in the macula. (B) In-vivo cross-sectional retinal image with high-definition spectral domain optical coherence tomography shows loss of normal foveal lamination pattern between the outer nuclear layer and retinal pigment epithelium indicating focal photoreceptor loss.

    Questions

    1. Which spinocerebellar ataxia subtype is typically associated with a reduced visual acuity? What is the …

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    Footnotes

    • Competing interests None.

    • Patient consent Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.