Patterns:

• Major and clinically relevant eye manifestations in congenital and childhood-onset DM1 can include hyperopia, eyelid ptosis, incomplete eyelid closure, strabismus, and other eye movement abnormalities.

• Cataracts, while a common concern in adults, are almost never seen in children.

• Bilateral eyelid ptosis is a frequent feature. In severe cases, it can obstruct vision and may require surgical or nonsurgical intervention.

• Weakness of eyelid closure muscles is also a common problem and can cause corneal damage.

• Otic infections during infancy manifested as an infection of the upper respiratory tract are frequent, and typically require surgical interventions, such as uni or bilateral tympanostomy.

Symptoms:

• Signs of upper respiratory tract infections, especially when manifesting as an otitis media.

Diagnosis:

• Discuss the following tests with your doctor:

  • LETTERS Baseline audiometry, especially at school age.

Treatment:

• Signs of strabismus or other ocular misalignment using a cover/uncover test. Persistent dysconjugate gaze in childhood can result in amblyopia.

• Eyelid ptosis; if ptosis becomes severe and interferes with vision, intervention such as eyelid “crutches” that can be inserted into glasses may be warranted. Try crutches as a remedy for ptosis before eyelid surgery is considered, due to anesthesia risks.

• Refer to:

  • An optometrist for examination at diagnosis and thereafter at least annually to identify hyperopia, astigmatism, strabismus.

  • An ENT if frequent ear infections are present.

  • An ophthalmologist for regular follow-up if eye movement abnormalities or weakness of eyelid closure are putting vision at risk. Ophthalmic lubricants for dry eye can be considered.