Getting to a Diagnosis
The journey to an LHON diagnosis can be long and frustrating. Because it’s a rare disease, with little available in terms of approved treatment, medical professionals may focus on more common, treatable causes of vision loss. They may be unfamiliar with LHON symptoms, or have inaccurate information about age and gender of onset. They may see nothing wrong with the eye and fail to consider the optic nerve as the potential issue. The genetic testing process can be long and expensive.
Finding the right medical resource is often difficult. The first visit may be to an optometrist when the patient thinks, “My vision suddenly got blurry, I guess I need glasses.” That can lead to a visit with an ophthalmologist, neurologist or retina specialist. A neuro-ophthalmologist is best trained to diagnose LHON, but it can take time to realize that, then weeks or months to get an appointment. During that period, the patient’s vision is suddenly, rapidly and profoundly deteriorating.
It may be helpful if a parent, spouse, or other sighted supporter can schedule appointments and tests and generally act as a “patient advocate,” since it’s difficult to navigate this maze for anyone, and particularly difficult for someone whose vision is deteriorating suddenly and significantly. Taking notes of comments by both the patient and the doctor can be helpful.
Requesting a copy of test results at each appointment is more efficient than tracking them down later. A quick summary from the “patient advocate” with additional comments from the patient can speed the information-gathering portion of each appointment, leaving more time to discuss possible causes of the vision loss and related concerns. Keeping a running chronology of key dates and events (doctor’s appointments, tests) with a copy of each doctor visit summary and all test results can be helpful.
For a family new to LHON, an LHON diagnosis may begin as a “clinical diagnosis” based on symptoms and family history. Genetic testing usually confirms the diagnosis with a specific mutation.
The diagnostic process can be expedited if your maternal bloodline indicates you likely carry an LHON mutation. Experiencing sudden, painless vision loss should prompt an urgent visit to an eye care professional to determine if LHON onset is underway.
