The Invaluable Role of the Retinal Specialist
Until therapies become readily available, it’s important for patients and families to establish an ongoing relationship with a retinal specialist familiar with retinal degenerations.
The initial diagnosis of a retinal degenerative disease is extraordinarily difficult for patients and their families. The news often comes as a shock, and the prospect of progressive vision loss is overwhelming. The advent of clinical trials for emerging treatments is providing great hope to those affected; major strides are being made in the Foundation’s fight against blindness. But even with hope, people often feel helpless and frustrated in managing the day-to-day struggles with these diseases.
Until therapies become readily available, it’s important for patients and families to establish an ongoing relationship with a retinal specialist familiar with retinal degenerations. Doing so can go a long way in minimizing the effects of the condition and maximizing quality of life.
Marco Zarbin, M.D., Ph.D., chair of the Department of Ophthalmology & Visual Science at Rutgers New Jersey Medical School, is one of the world’s leading clinical researchers for inherited retinal degenerations. The Foundation-funded expert provided us with an informative list of the steps he takes to help patients understand and manage their retinal conditions.
Make sure the condition is inherited.
First, I ensure the condition is, in fact, an inherited disease and not due to a drug or toxin, a manageable metabolic abnormality (e.g., Refsum disease, Bassen-Kornzweig syndrome), or an infectious-inflammatory process (e.g., rubella), which all could be treatable or even reversible causes of blindness.
Establish the correct inherited disease diagnosis.
A precise diagnosis can be challenging, because some inherited retinal diseases look similar upon examination. For example, some forms of retinitis pigmentosa (RP) may look like Stargardt disease, and vice versa. Genetic testing, with the guidance of a genetic counselor, may help patients obtain a definitive answer. An exact diagnosis enables me to give a reasonable estimate of visual prognosis for the patient, and how the condition may or may not affect others in the family. Also, if I know the disease-causing gene, I can give better advice about vitamin A therapy. If, for example, the mutated gene is ABCA4, I let the patient know that vitamin A therapy might accelerate his or her disease and vision loss.
Explain all findings to parents and patients.
It is important for me to present the complete picture to the patient and family. In some cases, patients may have syndromic retinal conditions, such as Usher syndrome, which also causes deafness, or Bardet-Biedl syndrome, which can manifest in several ways, including obesity, developmental issues and renal failure. Some parents and patients may not recognize that these problems are all linked to the same genetic abnormality, or, even worse, they may not realize these associated abnormalities are even present. Deafness may go unrecognized in children with Usher syndrome.
Treat what is treatable.
High refractive errors, which can be corrected with glasses, are relatively frequent. I make sure patients have the optimal refraction (corrective lenses). Low vision aides (e.g., a high-power, wide-angle flashlight) can be very helpful in maintaining functional independence even when vision is not normal. Cataract extraction can improve vision in selected patients. I also monitor for cystoid macular edema (CME) — a commonly occurring, and potentially damaging, swelling of the macula that can be treated with topical and/or systemic carbonic anhydrase therapy.
Monitor disease progression for patient safety.
Driving is the biggest safety concern. For example, when RP patients are able to drive legally, I monitor their visual fields regularly, every one or two years, to be sure they are not driving with excessively constricted vision.
Encourage people to stay informed.
The Foundation Fighting Blindness website is an outstanding source of reliable, up-to-date information on research and the various conditions. It also provides an entry point for joining chapters and participating in educational events, such as the VISIONS conference. Patients and parents learn much more about coping strategies and lifestyle issues from each other than they do from doctors. It’s very reassuring to know that you, or a child or loved one, is not the only one in the world losing vision, and that there are ways you can adapt, live independently and be successful.
Promote optimism, especially to affected children.
I encourage parents to be a source of optimism and strength, and to nurture their child’s many talents. Children do not know what to make of their disabilities. Their first impressions are derived from their parents and friends. I am truly amazed how happy and positive blind children are. When they leave the office, they’ve actually given me strength and not the reverse. I think the most unrecognized heroes in our society are the parents of children with disabilities. The happiness I see in the children is a testament to the strength and courage of their parents.