Genetic eye disorder often misdiagnosed

On Behalf of | Mar 20, 2020 | Failure To Diagnose

People in New Mexico with more uncommon medical conditions may face a frustrating experience attempting to find a diagnosis for their illness. This can be especially true if people are dealing with a health condition in which there are only a few specialists. For example, Stargardt disease is a type of macular degeneration of the eyes. This hereditary condition leads to people developing a “blind spot” in the center of their vision, and their eyesight deteriorates to the point where they become legally blind. Many people with Stargardt disease begin to experience vision loss as children and adolescents, but others develop it as young adults.

While the disease is hereditary, it may still be difficult to diagnose. Up to 37% of people with Stargardt disease were originally misdiagnosed. This may be common because there are relatively few ocular geneticists, or physicians who focus specifically on genetic diseases related to the eyes. Stargardt disease can present differently in individuals, so it may be challenging to determine the cause of vision loss involved. There are other genetic conditions that can also lead to similar vision problems, including ABCA4 mutations. DNA testing can confirm the presence or absence of Stargardt disease or another hereditary vision problem.

Stargardt disease is relatively rare, and there is not yet a treatment or a cure for the associated vision loss. In many cases, however, people are misdiagnosed with an illness that could have been treated but for their physician’s failure to diagnose it. In other cases, people may receive incorrect treatments for other conditions that lead to damaging side effects.

Misdiagnosis can cause a significant amount of wasted time as well as significant health deterioration. Patients who have suffered due to a doctor’s error may consult a medical malpractice attorney about how they might seek compensation for their losses.


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