PXE and the Eyes

Approximately 60% of PXE sufferers develop eye problems, many experience the loss of some central vision. Anyone with PXE who notices any changes in their vision e.g. when looking at something it appears to be distorted,or when reading something it appears that there is some text missing, they see flashing lights, or lots of floaters (little dark particles) moving around they need to go to eye casualty immediately. 

Ideally everyone with PXE should be seen by an Eye Specialist (one that has PXE knowledge) on at least an annual basis, depending on their sight.  If they have started to experience any central vision loss it is crucial that they are seen on a regular basis once you have started to have treatment/injections you will probably be seen monthly, 3 monthly, 6 monthly or yearly..  

  1.  As soon as you notice any distortion with your sight you must go to Eye Casualty immediately. Note:  This is crucial as you have "Ten Days to Save Sight".
  2. You will be given an eye test, then have drops put in your eyes. Depending on what is seen it is most likely that you will then be given an OCT test.( explained below)
  3. After the OCT test if the test does not show up a problem (this is not unusual), therefore the specialist will need to carry out a fluorescein angiogram, this will definitely show up the area affected.  When an angioid streak goes into the macular (which is where the central vision is stored) that is when the problems really start.   For more info on Fluorescein angiograms please see below for explanation).
  4. Once the tests have shown up a problem the next step is most likely that you will have to have an injection into that eye, this could be Avastin or Lucentis.  Although there have been no trials with PXE patients to see which of the drugs works best, from information gained from patients within PiXiE it would appear that Lucentis has shown very good results and patients need far less injections however a proper study is needed to prove this.

How the eye works

The eye is like a camera. When you take a picture, the lenses in front of the camera allow light through and focus that light on the film that covers the back wall of the camera. When the light hits the film, the picture is taken. The eyes work in much the same manner. The front parts of the eye (the cornea, the pupil and the lens) are clear and allow light through. The cornea and lens focus light on the back inside wall of the eye. A thin layer of tissue called the retina covers this wall. The retina is like the film in the camera. It is the seeing tissue. When the focused light hits the retina, a picture is taken and messages about this picture are sent to the brain through the optic nerve.

This is how we see. The retina has two parts: the peripheral retina and the macula. If you imagine the retina as a circle with a bull's-eye at the centre, the macula is like the bull's-eye: it is very small and is located near the optic nerve. The large area of retina that surrounds the macula and makes up 95% of the retina is called the peripheral retina. The peripheral retina gives us vision to the side, which is called "peripheral" vision. This is what we refer to when we say, "I saw something out of the corner of my eye." Because the peripheral retina cannot see detail clearly, we cannot use peripheral vision to read, thread a needle, drive, or even recognise a face. If I see someone "out of the corner of my eye," I can tell who the person is by his or her general shape, but I won't be able to see the expression on that person's face.

PXE affects the macula and not the peripheral vision. If the macula in only one eye is affected, you will still be able to see detail with the other eye but if the macula in both eyes is severely affected then it will become impossible to do work that requires detail vision. A person who has lost the ability to see detail with each eye will still be able to get along fairly well. Almost all people can see well enough to take care of themselves and continue those activities that do not require detail vision. People learn to make use of the areas just outside the macula to see detail better. Once the macula has been severely damaged, treatment is usually no longer possible. Therefore, everyone should test the vision in each eye, separately, regularly if they have a problem, by using the Amsler grid.

The Amsler Grid

The Amsler Grid is a square drawn on paper of approximately 3 inches side, divided into smaller squares of approximately one eighth of an inch side forming a grid. At the centre of the grid a black dot of approximately one eighth of an inch in diameter is drawn. Test the vision in each eye by looking at (a)  below, look at the dot in the centre with each eye separately.You may notice distortion of the grid pattern such as bent lines and irregular box shapes or a grey shaded area. If this is the first time of noticing such irregularities you should see your ophthalmologist as soon as possible. Again, if you see any changes from the previous time of checking you should also see your ophthalmologist.

The chart below is an approximation of the printed chart used by eye doctors. For more accurate detection of macular damage, you will need a complete eye exam.

                                           (Amsler Grid A)

How To Test Yourself with the Amsler Grid

If you need reading glasses, please wear them while you use the Amsler grid. The grid should be at about the same distance from your eyes that any other reading material would be.

Cover one eye, then focus on the dot in the center.

  • Do any of the lines look wavy, blurred or distorted? (All lines should be straight, all intersections should form right angles and all the squares should be the same size.)
  • Are there any missing areas or dark areas in the grid?
  • Can you see all corners and sides of the grid?
  • Don't forget to test both eyes.

VERY IMPORTANT: Report any irregularity to your eye doctor immediately.

You can mark areas of the chart that you're not seeing properly and bring it with you to your eye exam

The Eyes and PXE

The effect of PXE on the eye is directly on the microscopically thin layer of elastic tissue in the back of the eye. This tissue, which is directly underneath the retina and which supports the retina, develops cracks called angiod streaks. The streaks themselves cause no problems but with time (10 to 30 years), and often following trauma or heavy straining, the angiod streaks may cause slight bleeding. Such retinal haemorrhages readily heal but commonly leave a scar which, if it interferes with the macula, will lead to loss of central vision leaving only the less sharp peripheral vision.

These abnormal blood vessels are called SubRetinal NeoVascularization (SRNV). An eye when leaking will lose its ability to see detail unless treatment is done promptly even though treatment does not guarantee that vision won't be lost. In addition, if SRNV occurs in one eye, there is about a one in ten chance per year that it will occur in the other eye. The earlier that SRNV can be discovered, the more likely that vision can be saved or at least loss of central vision delayed. In other words, pay close attention to your eyesight and see your eye doctor if there is any type of change in your vision.

OCT  -  Optical Coherence Tomography “OCT” for short.

OCT is a non-invasive technology used for imaging the retina, the multi-layered sensory tissue lining the back of the eye. OCT, the first instrument to allow doctors to see cross-sectional images of the retina, is revolutionizing the early detection and treatment of eye conditions such as macular holes, pre-retinal membranes,macular swelling and even optic nerve damage.

Having the ability to follow-up certain retinal conditions with serial OCT studies has greatly enhanced the quality of patient care.

Similar to CT scans of internal organs, OCT uses the optical backscattering of light to rapidly scan the eye and describe a pixel representation of the anatomic layers within the retina. Each of these ten important layers can be differentiated and their thickness can be measured. , OCT uses the optical backscattering of light to rapidly scan the eye and describe a pixel representation of the anatomic layers within the retina. Each of these ten important layers can be differentiated and their thickness can be measured.

Fluorescein Angiography

If your doctor suspects SRNV, he will do a special test called fluorescein angiography. To do the test, dye is injected into a vein in the patient's arm. The dye travels throughout the body, including the eyes. With a special camera and a flash, not an X-ray machine, a series of photographs of the retina are taken as the dye passes through it. The photographs will show the kind of changes that have occurred in the retina and where those changes are located. This is necessary to determine what treatment, if any, should be given.

The photographs provide a kind of map that the doctor uses during treatment. There is another photographic test called indocyanine green angiography that is done the same way as fluorescein angiography.