PURPOSE: To assess the anatomic and functional characteristics in a Korean family with spinocerebellar ataxia type 7-associated atrophic maculopathy. DESIGN: Observational case report. METHODS: Three patients in a family underwent funduscopic examination, fluorescein angiogram, full-field electroretinogram (ERG), electro-oculogram, and optical coherence tomography (OCT). Macular functions were assessed using multifocal ERG and scanning laser ophthalmoscope (SLO) microperimetry. RESULTS: Both eyes showed bull’s eye configuration and cone-rod dystrophy phenotype. OCT revealed that retinal thinning extended outside the visibly atrophic lesions. Multifocal ERGdemonstrated that amplitudes from the six ring segments were reduced in a centrifugal pattern. SLO microperimetry showed that fixations were unstable and shifted superior to the atrophic lesions. The areas of functional deficits were greater than those of anatomic deficits. CONCLUSIONS: Macular functions were severely depressed in atrophic maculopathy associated with spinocerebellar ataxia type 7 in both the visibly atrophic areas and the areas without visible atrophy in a centrifugal pattern.
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