External Ophthalmoplegia, ANT1 and mtDNA Mutations

Background and History: 

This disorder of eye movement was first described by an ophthalmologist, Albrecht Von Graefe, in 1868.  A number of genetic disorders cause difficulties in eye movement, known as external ophthalmoplegia.  The type described here is largely limited to the eye.

Clinical Correlations: 

Droopy eyelids (ptosis) and difficulty moving the eyes are first noted at about 20 years of age and are the major symptoms.  Some progression occurs.  There may be some mild hearing loss, and skeletal muscles are affected little if at all.  Vision remains good throughout life.


This is an autosomal dominant disease and has been reported primarily in Italian families.  It requires only a single mutation and is usually acquired from an affected parent creating a vertical pattern of inheritance.

Diagnosis and Prognosis: 

Opthalmologists and/or neurologists generally make the diagnosis.  The prognosis is excellent and lifespan is normal.  Eyelid surgery can elevate the droopy eyelids.

Additional Information
Autosomal dominant