Abstract | PURPOSE: METHODS: A 40-year-old man with genetically confirmed spinocerebellar ataxia type 7 presented with progressive vision loss and decreased color perception for 3 years. He underwent a full ocular examination, fundus photography, autofluorescence, spectral-domain optical coherence tomography imaging, and a full-field electroretinogram. RESULTS: The patient's ocular examination and fundus autofluorescence were both normal except for mild temporal pallor of both optic discs. Spectral-domain optical coherence tomographic imaging showed foveal thinning with an outer foveolar defect because of focal loss of photoreceptors, disruption of the inner segment-outer segment junction but preservation of the external limiting membrane, and thinning of the outer plexiform layer in both eyes. Electroretinography showed severely reduced cone function with mildly reduced rod function. CONCLUSION:
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Authors | William M Watkins, Scott D Schoenberger, Patrick Lavin, Anita Agarwal |
Journal | Retinal cases & brief reports
(Retin Cases Brief Rep)
Vol. 7
Issue 3
Pg. 294-6
( 2013)
ISSN: 1937-1578 [Electronic] United States |
PMID | 25391128
(Publication Type: Journal Article)
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