Anatomical and functional characteristics in atrophic maculopathy associated with spinocerebellar ataxia type 7.
OBJECTIVE
To assess the anatomic and functional characteristics in a Korean family with spinocerebellar ataxia type 7-associated atrophic maculopathy.


METHODS
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 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.


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.
Ahn
Jae Kyoun
JK
Department of Ophthalmology, Seoul National University College of Medicine, 28 Yongon-dong, Chongno-gu, Seoul 110-744, Republic of Korea.
Seo
Jong-Mo
JM
Chung
Hum
H
Yu
Hyeong Gon
HG
D000328:Adult; D000067719:Ataxin-7; D001284:Atrophy; D004585:Electrooculography; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics; D016133:Polymerase Chain Reaction; D012160:Retina / Q000473:pathology* / Q000503:physiopathology*; D020754:Spinocerebellar Ataxias / Q000235:genetics / Q000503:physiopathology*; D041623:Tomography, Optical Coherence; D014792:Visual Acuity; D058609:Visual Field Tests
C000593829:ATXN7 protein, human; D000067719:Ataxin-7; D009419:Nerve Tissue Proteins