A unique cause of blepharoptosis associated with RYR1 mutation

We present the case of a 56-year-old man with a recessive RYR1 mutation (10318G>A) who presented with bilateral ptosis and ophthalmoplegia. Despite a history of rhabdomyolysis and Graves’ disease, he had not previously reported visual complaints. Following bilateral frontalis fixation surgery, his visual acuity improved. RYR1 mutations typically manifest as myopathies and susceptibility to malignant hyperthermia. To our knowledge, this is only the second reported case of a patient with the 10318G>A mutation presenting with blepharoptosis with ophthalmoplegia. Here, we outline the spectrum of RYR1 mutations as well as their ophthalmic and systemic effects.