Progressive External Ophthalmoplegias (PEOs) refer to a group of rare genetic disorders characterized by the progressive weakness or paralysis of the extraocular muscles, which are responsible for eye movements and coordination. PEOs primarily affect the muscles that control the movement of the eyes, leading to restricted or limited eye movements.
Symptoms of progressive external ophthalmoplegias usually develop gradually and may include droopy eyelids (ptosis), double vision (diplopia), difficulty moving the eyes laterally or vertically, and general weakness or fatigue of the eye muscles. Individuals with PEOs may experience muscle weakness in other parts of the body as well, such as the face and limbs.
These disorders are typically inherited as autosomal dominant or recessive traits, and several genetic mutations have been associated with PEOs. They can manifest at any age, from childhood to adulthood, and their progression can vary from mild to severe. In some cases, PEOs may be associated with other symptoms and medical conditions, including muscle weakness (myopathy), hearing loss, or other neurological abnormalities.
Diagnosis of PEOs often involves a thorough clinical evaluation, medical history assessment, and genetic testing to identify the specific mutation. Treatment options for PEOs include the management of associated symptoms, such as prescription glasses for double vision, surgical correction of droopy eyelids, and physical therapy. Researchers are continually exploring potential genetic therapies to target the root cause of PEOs and enhance patient outcomes.
