Tubular aggregate myopathy associated with retinal degeneration.
METHODS
We report a case of congenital tubular aggregate myopathy associated with retinal degeneration.


CONCLUSIONS
Bilateral, asymmetric retinal degeneration developed in a 37-year-old woman with a history of congenital tubular aggregate myopathy. The major pathological feature was the presence of tubular aggregates, believed to arise from the sarcoplasmic reticulum, which are present in skeletal muscles only. The abnormal functioning of the smooth muscles of the pupillary dilator, together with retinal degeneration in our patient, suggests that tubular aggregates may represent a more generalized disequilibrium of intracellular calcium homeostasis that may not be confined to skeletal muscles.
Parulekar
Manoj V
MV
Department of Ophthalmology & Vision Sciences, Division of Neurology, University of Toronto, Toronto, Ontario, Canada.
Halliday
William
W
Brent
Michael
M
Kong
Kester
K
Wong
Agnes M F
AM
D000328:Adult; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology; D020914:Myopathies, Structural, Congenital / Q000150:complications* / Q000175:diagnosis; D009755:Night Blindness / Q000209:etiology; D012162:Retinal Degeneration / Q000150:complications* / Q000175:diagnosis; D012519:Sarcoplasmic Reticulum / Q000473:pathology; D014786:Vision Disorders / Q000209:etiology; D058609:Visual Field Tests; D014794:Visual Fields