Tubular Aggregate Myopathy with Miosis and Rod-Cone Dysfunction

Tubular aggregate myopathy (TAM) is a rare condition primarily affecting skeletal muscles. Abnormal proteins build up in type I and II fibres forming bundles of tube-like structures called tubular aggregates. It is characterized by muscle pain, cramps, weakness and fatigability. There have been reports of pupil miosis, ophthalmoplegia and retinal degeneration in patients with TAM. Two genes have been implicated in TAM; STIM1 gene encodes a protein which acts as endoplasmic reticulum calcium sensor, and ORAI1 gene which encodes calcium release-activated calcium channel. We report a patient with miosis, rod-cone dysfunction and TAM with heterozygous Pro245Leu mutation in the ORAI1 gene.