DEAR DR. GOTT: I am a 60-year-old female. My ophthalmologist diagnosed me with an eye condition called retinitis pigmentosa (RP).
I would like a second opinion. I know this is an incurable disease and I am rapidly going blind. Any information on slowing down the disease as well as diagnosing it would be greatly appreciated. If I am able to obtain a second opinion, what tests should I have to confirm the diagnosis? Should I have genetic testing done?
DEAR READER: You have damage to the retina, an area at the back of the inner portion of the eye that converts images to nerve signals and sends them on to the brain. Generally speaking, the cells that control night vision are likely to be affected; however, in some instances, retinal cone cells are damaged more.
Symptoms can appear in childhood, with visual difficulties developing years later. A person with retinitis pigmentosa may lose peripheral or central vision, and he or she may have difficulty seeing at night or when there is minimal light available.
Testing the retina is varied and may include dilating the pupils and examining the retina, determining visual acuity, performing refraction testing or retinal photography and a host of other possibilities. Protecting the eyes from ultraviolet light by wearing sunglasses may preserve vision. There are ongoing studies about the potential benefit of omega-3 fatty acids and one type of RP does respond to vitamin A. Your disorder will progress slowly. Peripheral vision is the first to go. Central vision loss is a late finding. You may also be faced with early cataracts or macular edema (retinal swelling). If you should develop cataracts that obstruct your vision, they can be removed surgically.
There are other conditions that behave in a similar fashion to retinitis pigmentosa. They include Laurence-Moon syndrome, Friedreich’s ataxia, myotonic dystrophy, mucopolysaccharidosis and Usher syndrome. Therefore, I believe you are accurate in asking whether a second opinion is in line. My guess is that you are unsure whether your insurance will allow a second opinion because I cannot imagine your physician would deny you the privilege of confirming the diagnosis. Because this is a hereditary disorder, you might request genetic counseling to determine whether your children or siblings are at risk as well.