Ptosis and Recent-onset Visual Impairment in a 32-Year-Old Man

By Aziz Shaibani, MD, FACP, FAAN

A 32-year-old man presented with ptosis since childhood and visual impairment since the age of 29. Examination is shown in the video online at He also had mild proximal weakness. Ophthalmological examination revealed pigmentary changes in the retinas. ECG revealed prolonged PR interval. CPK level was 334 U/L. EMG revealed proximal myopathic changes. What tests are needed? What's the diagnosis?

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Launched in January 2002, Practical Neurology strives to enhance quality of care and improve the daily operation of neurology practices. Each month, our experts explain the real-world significance of recent advances in neurologic science and offer step-by-step advice on how to overcome the clinical and business challenges neurologists face. Our straightforward, how-to articles give neurologists tools they can put into practice right away.