Eye Problems

Muscular dystrophy is a disease caused by muscle weakness as a result of mutations in genes that regulate muscle function. The condition affects the eyes in addition to the central nervous system, heart, lungs, gastrointestinal tract, and hormone-producing glands. Eye problems can vary based on the type of muscular dystrophy.

Eye problems in different types of muscular dystrophies

The skeletal muscles controlling the movement of the eyes, also known as extra-ocular muscles, show a normal structure and function in Duchenne and Becker muscular dystrophies.

Patients with myotonic dystrophy (DM) usually have ptosis (drooping or falling of the upper eyelid because of weakened muscles), cataract (clouding of the eye lens, leading to blurred vision and blindness), blepharitis (inflammation of the eyelids), and, rarely, diplopia (double vision).

In oculopharyngeal muscular dystrophy (OPMD), the first symptom is usually ptosis affecting both eyes. Some patients may also have ophthalmoplegia (paralysis of one or more of the six extra-ocular muscles that hold the eye in place and control its movements) and strabismus.

In facioscapulohumeral muscular dystrophy (FSHD), the most frequent eye problem is abnormal patterning of the blood vessels at the periphery of the retina (telangiectasia). The involvement of the extra-ocular muscles is infrequent.

In certain types of limb-girdle muscular dystrophy (LGMD) such as LGMD1C and LGMD2L, ophthalmoplegia, exophthalmos (outward bulging of the eye), and ptosis have been reported.

Management of eye problems

There are different ways in which eye problems can be managed or their occurrence reduced. Simple measures such as using sunglasses can reduce UV ray exposure, thereby slowing the progression of lens opacity. More drastic measures may need to be taken for more severe cases.

Cataract surgery

Surgical removal of the opaque lens and the implantation of an intra-ocular lens is generally needed when cataracts interfere with the patient’s ability to meet the needs of daily living. Other modern cataract surgery techniques such as standard extracapsular cataract extraction and phacoemulsification (also called small incision surgery) can be performed under local anesthesia on an outpatient basis.

Ptosis correction

There are three correction treatments available for ptosis.

Eyeglasses with eyelid crutches are available for severe ptosis that obstructs vision.

Frontalis suspension surgery is another option that can treat ptosis.

Finally, blepharoplasty can be used to correct the drooping of the eyelids where the eyelids are raised above the visual axis to enable the patient to see. The problem with this approach is that if the muscles that close the eyelids are weak, the patient might not be able to close their eyes completely after surgery. This also can increase the risk of exposure keratopathy, which refers to corneal damage because of prolonged exposure to the outside environment.

Because muscular dystrophy patients can have pulmonary, cardiac, endocrine, and central nervous system problems, any surgery or anesthesia must be carefully considered because of the risk of complications.


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