Tubular aggregate myopathy associated with retinal degeneration

Abstract Case report: We report a case of congenital tubular aggregate myopathy associated with retinal degeneration. Comments: 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.