FAP and Your Eyes
Familial amyloid polyneuropathy (FAP) is a disorder in which abnormal clumps of proteins called TTR amyloids accumulate in tissues and organs, interfering with their function. The aqueous humor of the eyes is one place where TTR amyloids accumulate. This is the jellylike substance that makes up most of the eye’s volume. This accumulation can cause an array of eye problems.
What problems can FAP cause to your eyes?
TTR amyloids that form in the aqueous humor can cause opacities or areas where the eye is cloudy. These can lead to vision problems similar to cataracts. Patients also may have dry eyes and abnormalities in the pupils and blood vessels of the eye. Some patients may develop glaucoma — high pressure in the eyes which can lead to blindness. Others may experience optic neuropathy or damage to the optic nerve. The optic nerve carries visual information from the eye to the brain. If it cannot function normally, vision may be lost.
How do doctors diagnose eye problems?
If you have FAP, you should see an ophthalmologist to determine whether the disease is affecting your eyes. As your disease progresses, regular check-ups can identify vision problems so they can be treated in a timely manner.
A normal eye exam may not be able to identify amyloids in the eyes. However, it can detect changes in vision, early signs of glaucoma, and changes in eye health (such as pupil or blood vessel abnormalities), which can indicate that further testing or treatment may be necessary.
There are new non-invasive eye tests that researchers are developing, which one day may be able to detect amyloids in the eyes.
How do doctors treat eye problems in FAP?
For example, they may treat patients in the early stages of glaucoma with eye drops that help reduce pressure in the eye. When medications are not available or effective, a type of surgery called filtration surgery, also know as trabeculectomy, might be necessary. For patients with optic nerve damage as a result of FAP, treatments may not be effective in slowing or preventing loss of vision.
Last updated: July 30, 2020
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