On Thursday’s episode of Grey’s Anatomy, a girl with no cheek bones needed a surgery so that she could start playing sports without the fear of getting her face harmed. The girl had a syndrome called Treacher-Collins syndrome, explained below.

Danger: Medium

What is it?

Treacher-Collins Syndrome (TCS for short), also called mandibulofacial dysostosis, is a rare genetic disease causing deformities in the facial bones of our skull, such as absent cheek bones.

Who gets it?

TCS is rare. It happens in 1 out of 40-70,000 births.

It is genetic, and in 40% of cases runs in the family, meaning that the child inherits the defective gene from one of the parents in 40% of cases. The other 60% don’t depend on the parent, and the defective gene appears for the first time in the child.

What causes it?

When a fetus develops, its organs have many phases along the way to becoming adult organs. An example for that are the pharyngeal arches, grooves, and pouches. These are all structures that exist only in the fetus, while it’s developing in the womb. They develop slowly during pregnancy into adult organs.

For example – there are 6 pharyngeal arches, each developing into different organs or organ parts in our body.

A developing fetus. Three of the pharyngeal arches are labeled below (mandibular, hyoid, third).

In TCS, there’s a problem with growth of organs that derive from the 1st and 2nd arches (and grooves, and pouches) which are responsible for growth of structures in our face.

How does it feel?

Most people with TCS have underdeveloped facial bones, especially cheek bones, and a small jaw and chin (this is called micrognathia).

Sometimes an opening in the roof of the mouth can occur, called a cleft palate.

In severe cases, it may impair the baby’s airways and be life threatening.

In terms of appearance, people with TCS have eyes that slant downward, sparse eyelashes, and a coloboma, which is a notch in the lower eyelids. There can be other eye abnormalities, causing loss of vision.

The ears can also be affected and be absent, small, or have an unusual shape. This can also lead to hearing problems.

Here’s an example – this video is from a girl with TCS -

How is it discovered?

The looks of a child with TCS help diagnose the disease. The set of features unique to the condition help the doctor come at the correct diagnosis. Also, genetic testing can be done to see if the child has the defective gene.

If the doctor is in doubt, an facial image using x-ray or a CT scan can be used to help with the diagnosis.

How is it treated?

Plastic surgery can be used to treat certain deformities in the face (on Grey’s Anatomy, a bone graft was used to give the girl cheek bones).

Other things are also done to aid other problems that come with the disease, such as hearing aids for hearing loss, or help with breathing if the disease involves the airways.

What happens after treatment?

Children with this syndrome usually grow to become normally functioning adults. It’s important to address any hearing problems, so that the child can perform normally in school.

If there is a history of TCS in the family, genetic counseling may prevent the birth of a child with the condition.

You can learn more about the condition by reading the Reflections on Treacher-Collins Syndrome blog, written by Amie.

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1. As Seen on Grey’s Anatomy – Tethered Spinal Cord Syndrome
2. Superior Canal Dehiscence Syndrome – Hearing Sounds Inside Your Own Body (As Seen on Grey’s Anatomy)
3. Osteoporosis – How Your Bones Can Get Thinner With Age And What You Can Do To Avoid It

Danger level: High

What is it?

Retinal detachment is an emergency situation that damages your eye’s retina and which can cause blindness.

Who gets it?

Retinal detachment occurs in about 1 in 10,000 people each year.  It is more common in certain situations -

1. Aging – Although it can happen to young people, retinal detachment is more common when you age. Most cases occur between the ages 50 and 75.
2. Nearsightedness – People with large numbers in their glasses are more prone to it.
3. After surgery for cataract
4. After an injury or trauma to the eye
5. If you had the condition in one eye – The other eye is more prone to it.
6. A family history – If someone in your family had it, your chances of developing the condition are higher.

What causes it?

To understand that, you must first understand some basic facts about the anatomy of the eye:

The back part of our eyes is composed of a layer, shown in the drawing in yellow. This layer is called the retina. It’s composed of nerves, and its role in the eye is like the role of a film in a camera – It captures the image, transforms it into an electrical signal, and then sends that signal to our brain.

In retinal detachment, one layer of the retina detaches from another layer of it, causing it to stop working correctly.

What causes the actual detachment? As you can see in the drawing, most of our eye is filled with a gel called vitreous, which is attached to the retina. When we age, that get turns more and more into liquid and shrinks, a process known as posterior vitreous detachment or PVD. When it does, it may pull the retina with it, causing tears in it. These tears allow fluid within the eye to collect under the retina, which may cause the layers of the retina to detach from one another.

There are other types of retinal detachment caused by other conditions, which we will not cover here.

How does it feel?

When PVD occurs (well before a retinal detachment occurs) people start seeing floaters and flashes.

Floaters are bits of debris that appear as spots, hairs or strings in your field of vision. It’s best seen when looking at a light colored surface, such as the sky or a white wall.

Flashes are sparkles of light that you see suddenly, mostly with your eyes closed.

Floaters and flashes serve as a warning sign that you should visit an ophthalmologist. Sometimes, though, a retinal detachment can appear without any warning. You will see floaters or flashes that appear suddenly. You may also see a shadow in the periphery of your field of vision that doesn’t go away and that may continue to a blurry vision.

How is it discovered?

Retinal detachment can be discovered by an ophthalmologist by looking at your retina with a special instrument called an ophthalmoscope, which is a sort of magnifying tool helping to see any holes, tears or detachments in the retina.

How is it treated?

Retinal detachment requires emergent treatment. Otherwise vision may be lost.

The only way to repair a detachment is through surgery.

What happens after treatment?

That depends on a few factors, such as how much time passed from the detachment to the repair, the area in the retina that was detached, and others.

You can’t prevent PVD from occurring. However, when you get holes or tears in your retina, you can prevent a detachment from occurring by visiting your doctor. A laser treatment can seal retinal tears and prevent a detachment from happening.

Also, as we mentioned above, sometimes a tear can be caused by an injury to the eye. If you’re in a condition which puts your eyes in danger (such as during sports – boxing, racquetball, etc. , or when working with power tools) wear protective glasses.

This video sums it all up -

No related posts.

60 years old Sharron “Kay” Thornton lost her eyesight in 2000 due to a disease that scarred her cornea.

After some failed attempts to correct her condition, a procedure called modified osteo-odonto-keratoprosthesis was tried on her. In this procedure, an oral surgeon removes one of the patient’s teeth (yes, teeth), drills a hole in it, and inserts a lens through the hole.

After a few preparations (which include, you’re reading right, implanting the tooth in the shoulder and using skin from the cheek to prepare the eye) the tooth is implanted in the eye and is now used as part of the eye.

Since the operation, Thornton’s eyesight keeps improving and she can now read newspapers.

 

A tooth for an eye. Photo by ‘smil

You can read the full story here (via The Los Angeles Times) or about the procedure in Wikipedia

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