Dr. FRUCHTMAN DIAGNOSES RARE CONDITION DURING EYE EXAM
We’ve long maintained that the eyes are not only the window to your soul but also to your health. That’s why we recommend at least an annual eye exam—even if your eyesight is fine. Hidden conditions within the eye can be early precursors of other bodily illness and disease.
When a patient came to Dr. Fruchtman in 2018 with a complaint of blurry vision along with other symptoms he’d been experiencing, Dr. Fruchtman knew that something was definitely wrong.
Of course, blurry or cloudy vision by itself can be caused by a number of circumstances: an eye or head injury, typical vision loss, poor dietary habits, and more. So, Dr. Fruchtman took his time listening to the patient and performing a thorough eye exam. And he began to connect the dots.
The male patient had already been to a number of medical doctors, including doctors in both the United States and in his home country. But despite ongoing symptoms and hospitalization, no MD had been able to diagnose his strange condition, nor did they consider that he could have a rare disease.
After examining the patient, Dr. Fruchtman recognized a tell-tale corneal abnormality. He concluded that the patient was suffering from Fabrys disease, and he was able to recommend a viable course of treatment.
Fabry disease is genetic and can often run in families, carrying a wide variety of symptoms. The disease is actually a buildup of a certain type of fatty substance in the body. The buildup narrows the blood vessels, which can cause damage to the skin, kidneys, liver, heart, brain, and nervous system.
The puzzling factor is that Fabry disease shows itself through a number of seemingly unrelated and highly common symptoms, which can make the disease difficult to diagnose.
Pain and burning in the hands and feet that get worse with exercise, fever, and hot weather or when tired
Small, dark red spots usually between the belly button and knees
Ringing in the ears (tinnitus)
Sweating less than normal
Bowel movements right after eating
After his eye appointment, the patient went to see his regular physician, who dismissed Dr. Fruchtman’s diagnosis. The patient then returned to the doctor in his home country, who sent him to a cardiologist who then confirmed the condition.
With his new treatment plan, the patient is receiving infusions every two weeks for the remainder of his life—and he is feeling much better. Currently, there is no cure for Fabry disease, but treatment and special care can bring the symptoms under control.
Thanks to Dr. Fruchtman’s patience, knowledge, and skills, he was able to diagnose the patient’s rare condition and possibly prolong his life.