Fabry disease

By: Dr. Melanie Sivley, O.D., F.A.A.O


Many serious diseases, such as diabetes, high blood pressure, heart disease and thyroid disease, commonly affect the eyes. Evidence of these diseases can be recognized during an eye exam because neurologic and vascular structures of the eye are visible to an optometrist or ophthalmologist. Genetic diseases are more rare, but many can be identified during an eye exam, as well.


Fabry disease is a potentially fatal genetic disorder that can be first detected during a routine eye examination. It is the result of a gene defect that causes particular fat molecules to build up in cells throughout the body. Fabry disease is believed to affect as many as 1 in 3,000 males and at least as many females. The effects are usually seen earlier and are more severe in males. There is no cure for Fabry disease, but treatment to manage the condition is available.


Early symptoms of Fabry disease may begin in childhood and include pain in the hands and feet, reduced ability to sweat, heat intolerance, unexplained fevers, red bumps on the skin, and gastrointestinal problems. Fabry disease also affects the kidneys, heart, brain, and blood vessels. Without treatment, premature death may result from kidney failure, heart attack and stroke at a relatively young age. Symptoms may not be obvious until adulthood, and some Fabry patients may never develop symptoms, unknowingly passing the disease from generation to generation. It is therefore important to catch the condition before irreversible organ damage occurs.


In most cases, the alert eye care practitioner can see a whorl-like pattern within the clear cornea of the eye. This pattern is highly suggestive of Fabry disease and is present in almost all individuals, symptomatic or not, who have the condition. Other eye effects of Fabry disease include cataracts, distortion of the blood vessels on the inside and outside of the eyeball, dry eyes, and optic nerve problems. These eye findings also accompany other conditions, so Fabry disease can go unrecognized until the disease is advanced.


Early detection is the key to early intervention and treatment with enzyme replacement therapy, which clears the build-up of fat molecules from many body tissues and allows Fabry patients to live a more normal life.


Much of the pain and suffering of Fabry disease can be avoided if an eye care practitioner recognizes the condition and makes the appropriate referral. Entire families can be alerted to a disease of which they were previously unaware. This knowledge then allows the patient and affected family members to be appropriately treated and genetic counseling made available for future generations.



Dr. Melanie Sivley, O.D., F.A.A.O., is Director of the Fabry Eye Service at the UAB School of Optometry and conducts research on the ophthalmic manifestations of Fabry disease.