Ocular abnormalities in the Freeman-Sheldon syndrome

Area of Science:

• Ophthalmology
• Genetics
• Pediatric Medicine

Background:

• Freeman-Sheldon syndrome is a rare genetic disorder.
• It is characterized by craniofacial abnormalities and limb malformations.

Observation:

• Five of 11 patients with Freeman-Sheldon syndrome exhibited ocular abnormalities.
• The most common findings were strabismus (eye misalignment) and blepharoptosis (drooping eyelids).

Findings:

• Extraocular muscle stiffness, confirmed by forced duction testing in three patients, complicated surgical interventions.
• Despite surgical efforts (frontalis muscle sling or levator resection), all three operated patients remained exotropic (outwardly turned eyes).

Implications:

• Ocular manifestations are a significant concern in Freeman-Sheldon syndrome.
• Surgical management for strabismus and blepharoptosis in these patients presents unique challenges due to muscle rigidity.
• While functional alignment may be difficult to achieve, cosmetic improvements are possible with appropriate surgical techniques.