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 2002, Practical Neurology is a publication uniquely dedicated to presenting current approaches to patient management, synthesis of emerging research and data, and analysis of industry news with a goal to facilitate practical application and improved clinical practice for all neurologists. Our straightforward articles give neurologists tools they can immediately put into practice.