Abstract
To assess the anatomic and functional characteristics in a Korean family with spinocerebellar ataxia type 7-associated atrophic maculopathy. Observational case report. 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. Both eyes showed bull's eye configuration and cone-rod dystrophy phenotype. OCT revealed that retinal thinning extended outside the visibly atrophic lesions. Multifocal ERG demonstrated 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. 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.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
