Síndrome de Kabuki

Definition

Ptosis refers to the drooping of the upper eyelid. It typically arises from dysfunction of the levator muscle and may occur in isolation or as part of several genetic syndromes, with Kabuki syndrome being a notable example. Since the child is at a stage of visual development and growth, one specific consequence of being unable to open the eye normally during childhood can be the development of amblyopia, commonly known as "lazy eye." 

Symptoms 

Symptoms associated with ptosis include: 

- The upper eyelid droops, partially or completely covering the eye 

- Reduced visual field 

- Need to tilt the head backward or even lift the eyelid with a finger to see 

Treatment

The treatment for ptosis is surgical. The goal of the surgery is to repair the tendon responsible for lifting the eyelid or to restore normal muscle tone. Surgery is typically not performed before the age of 5, except in specific cases.