Search
  • Ekaterina Fields

CDK13-related Genetic Disorder: Focus on the Eyes. Vision, Squint and Ptosis.

With CDK13 genetic disorder, the small muscles and their precise control develop slower and with difficulty. What does it potentially mean for the eyes?

  1. The eyesight can be weaker.

  2. The eye position (squint) can affect one or both eyes.

  3. The eye lids (eye lid ptosis) can droop, potentially blocking sight.

These three issues can affect each child to a different degree. It will be important however to mention all three issues to your eye doctor, and to ask that they are addressed if need be, as soon as possible, with frequent check-up appointments. It is important to mention that eye sight, squint and ptosis issues are associated with your child's CDK13-related genetic disorder. This will help you receive the help you need.

1. The Eyesight

Many children with the CDK13-related disorder need their vision professionally tested. Early wear of glasses improves eyesight in children remarkably. Children with CDK13-related disorder often have a low nasal bridge, which can make wearing glasses tricky (they slide down). This can be helped by choosing a pair with a silicon support in the middle, and by securing glasses around the head with a silicon band.


2. The Eye Position (Squint)


In many CDK13 children, one or both eyes are not positioned correctly, but point slightly off center, towards the nose or away from it. Squint can be fully corrected or significantly improved by wearing specialist prescribed glasses, with progress directly related to how early you start and how long for and how well the child wears their glasses.


3. Eyelid Ptosis


Droopy eyelids are a visible trait of many CDK13-affected children. The degree to which the

eyelids droop (descend on the eye) varies from child to child. This degree of severity can also change over time. In some children, very mild ptosis becomes more severe with age as the child grows, the eyelids get bigger, wider, heavier. In others children, small muscle control develops with age and the child learns to lift the top eyelids (not just the eyebrows) to keep their vision unobstructed.


Mild ptosis may not be anything to worry about. Moderate or sever ptosis call for a careful consideration. It is important to assess whether your child's ptosis (on one or both eyes) blocks the pupil, affecting vision. Remember to account for the eyelashes which add to ptosis in obstructing the pupil. If the pupil is partially obstructed, a surgery exists to help. A specialist eye surgeon for children, called a paediatric ophthalmological surgeon, will be able to assess your child's eyelid ptosis and will have experience in correcting it.


 

Information on this web site is public. Please share it with others affected with the CDK13 related disorder or with anyone with eyelid ptosis. Let's together raise awareness and help others. As always, if you have any questions, please join our Facebook group or write a private message through this website's contact page.

by Ekaterina Fields


26 views0 comments