Congenital Ptosis

Diagnosis: Isolated congenital ptosis

Differential Diagnosis:

• Marcus Gunn jaw winking
• Blepharophimosis syndrome
• Congenital fibrosis of extraocular muscles
• Congenital myasthenic syndrome
• Third nerve palsy
• Horner's syndrome
• Upper eyelid mass (plexiform neurofibroma, dermoid cyst)

Discussion:

Congenital ptosis can be separated into ptosis that occurs in isolation (simple ptosis) and ptosis that occurs in association with other ocular findings or systemic conditions. Understanding the etiology of the ptosis is imperative for accurate surgical planning and in the management of a patient's underlying systemic condition. Here we will discuss the various types of ptosis and follow this with a discussion of the various treatment options.

As demonstrated in this case, coordinating care with a pediatric ophthalmologist is essential to the management of these patients. Every patient being evaluated for congenital ptosis requires a complete ophthalmic evaluation with special attention to amblyopia, anisometropia and irregular astigmatism induced by the ptotic eyelid. These findings often dictate surgical management as will be discussed below.

One of the most important elements of the examination of a patient with apparent congenital ptosis is to determine whether the patient's eyelid is actually primarily ptotic or ptotic secondary to another physical process. Subcutaneous masses like plexiform neurofibromas, capillary hemangiomas and lymphangiomas can all masquerade as unilateral ptosis and should not be confused for true ptosis.