Overview

Treacher Collins syndrome (TCS), also known as Treacher Collins–Franceschetti syndrome, is a rare genetic disorder, characterised by multiple craniofacial deformities. TCS affects the development of the eyes, ears and jaw. This development of facial bones happens because of changes in certain genes that are responsible for making facial structures before birth. Due to this people with TCS often have facial features that are unique and different. TCS can also make people experience medical challenges such as vision problems. 

Many individuals with TCS have eye abnormalities that can cause discomfort, dryness, and even vision impairment. Some might have small problems, but others face more severe ones. Eye troubles in TCS can change how you live each day, so knowing about the eye problems and how to treat them matters. This article explores the common eye abnormalities in TCS, how they can affect vision, and what treatment options are available.¹

Common eye abnormalities in TCS

People with TCS have distinctive facial features, this includes eye-related abnormalities that lead to vision problems. Some of the common eye-related abnormalities include:

• Having a Lower Eyelid Coloboma: This is a condition in which part of the lower eyelid is missing or underdeveloped. This can result in the eyelids not closing properly which leads to excessive dryness. The cornea is also being exposed more, which can cause infections or irritations. There is also a potential corneal damage due to reduced tear distribution²
• Downward Slanting Eyes: Because of abnormal bone development, the outer corner of the eyes in people with TCS tends to slant downward. Having this characteristic can contribute to not being able to fully close the eyelid which increases the risk of dryness. The Altered eye shape can also sometimes affect peripheral vision²
• Sparse or Absent Lower Lashes: Many People with TCS may not have a lot of eyelashes in their lower eyelids. Eyelashes in the lower eyelid are usually a protective barrier against any dust or debris, not having this barrier can cause The eyes to be more vulnerable to any irritation. There is also a higher chance of infection because of missing natural defence mechanisms²
• Underdeveloped Tear Ducts: People with TCS may have smaller or undeveloped tear ducts, which leads to dry eyes which will increase the risk of corneal damage. There may also be excessive tearing due to improper tear drainage³

Vision problems and related complications

With eye abnormalities, people who have TCS are likely to experience vision problems. Some of the most common vision-related complications include:

•  Dry Eyes: The eyelids not closing properly and reduced tear production makes people with TCS have chronic dry eyes. This can cause pain, and redness and it might hurt the cornea⁴
• Corneal Damage: Another concern is cornea damage as people with TCS have corneas that are more exposed than usual, and because of this it's more prone to damage. If the eyes become too dry, the cornea may have scratches or ulcers which causes pain⁴
• Strabismus: Some people with TCS may also have a condition known as strabismus. This is when the eyes do not align properly this can make you have double vision, blurred vision or difficulty with depth perception⁵
• Refractive Errors: Refractive errors, like nearsightedness or farsightedness, can come from abnormal eye shape. Having this problem can make it hard to focus on objects that are at different distances⁴
• Light Sensitivity: Individuals with TCS can be more sensitive to bright light. This is because the cornea is more exposed and does not have tear protection. This sensitivity can make the person not feel good in bright environments. The person might need protective eyewear⁴

Diagnosis and early detection 

Finding vision problems early on is better as it can prevent any long-term complications. Regular eye exams are needed for people with TCS, as it allows for doctors to check the eye and recommend treatment. CT and MRI scans help when the doctor needs to look at the bone structures near the eyes. Genetic testing can confirm the presence of TCS and help predict possible vision-related challenges.⁶

Children who have TCS should have their eyes frequently from a young age to detect any problems as soon as possible. Parents and caregivers should know the signs of discomfort, more tearing than usual or not being able to focus as these signs can mean that there is an underlying problem that a doctor should give medical attention to.⁶

Treatment and management 

While there is no cure for TCS, there are different treatments available that can help make the eye function better and not allow any further complications. Sometimes surgery might be used to correct severe eyelid abnormalities. One form of surgery is eyelid reconstruction, this surgery can help with the eye’s ability to open and close properly. Other people might need a cheekbone implant, which can give better structure support for the eyes. Lastly, if a person is suffering from strabismus that is severe, surgery can be used to realign the eyes.⁷

People who do not need surgery can go for non-surgical options to help with the symptoms. Eye drops that are lubricating can help with dryness symptoms while glasses or contact lenses help with vision problems. Wearing protective eyewear can also protect the eye from dryness, wind and any irritants. Going for vision therapy is good, as it makes the eye muscles strong and helps alignment.²

Living with TCS and vision problems 

Taking care of vision problems in TCS requires ongoing care and adjustments in daily life. Regular eye check-ups are essential to monitor changes and address issues early. Those with TCS may find using tools like big-lens or screen adjustment useful for reading or any other activities.

Going to support groups for people with TCS can also be comforting, as experiences can be shared and connecting to different people who can understand you better. Raising awareness about TCS and what it can do to the eyes and the vision problems it causes, can help make access to the right treatments and support systems easier.⁸

Summary

Treacher Collins Syndrome can cause many different vision problems, but the right treatment and care can help people protect their vision and make their quality of life better. Finding the vision problems early on alongside having regular check-ups is important to prevent any serious complications. Being given the right treatment is also crucial for Treacher Collins Syndrome. From understanding what the connection is between TCS and vision problems, it's easier to give support to people who are affected and make better treatments available.