The main goals of the Center for Hereditary Retinal Disease are:
- To provide state-of-art patient care to affect patients and their family members
- To maximally advance clinical and basic research into the cause and treatment of hereditary retinal conditions.
Rationale for Establishment of the Center
Patients with hereditary retinal disease are usually not adequately managed by the practicing clinician. There are multiple reasons to why this occurs. First, the clinician may not have a broad knowledge of this large group of conditions to make the correct diagnosis. Access to specialized tests necessary for diagnosis such as electrophysiologic tests is difficult. Likewise, access to genetic testing is limited. The clinician typically lacks the required in-depth knowledge of current research to counsel patients with hereditary retinal disease in terms of cause, visual function, prognosis, genetic pattern, risk to other family members, and information on the latest clinical trial and research. Furthermore, such clinical and genetic counseling requires time that is not ordinarily possible in the clinician’s busy clinic.
Therefore, there is a great need to provide patients with hereditary retinal disease with state-of-art clinical care that includes proper diagnosis, comprehensive clinical characterization, and prompt low-cost genetic testing. This will not only aid in the management and counseling of patients but will also advance our knowledge into the expression and treatment of these conditions.
Genetic testing and genetic research is important in hereditary retinal disease. Genetic testing allows the identification of the fundamental cause of the patient’s disorder. Prompt genetic testing identifies the patient’s genetic causal mutation and allows clinical correlation that helps to determine the degree of how a disease is expressed. Genetic testing and research also leads to the discovery of new disease-causing gene and mutations. Most importantly, genetic testing identifies patients for current and future gene directed clinical trials.
Identification enough patients for a particular gene directed clinical trial is not an easy task because the number of genes and genetic variations for hereditary retinal diseases are numerous. This means that only a small percentage of patients with a particular condition will harbor mutations on a specific gene and qualify for a specific clinical trial. Therefore, a large number of existing patients who are well-characterized both clinically and genetically is required for current and anticipated future clinical trials.
Components and Goals
Patient Care. A weekly clinic dedicated to patients with hereditary retinal disease. Each patient will have a comprehensive assessment and management including:
- Comprehensive history with detailed pedigree
- A Miami contingent visited Iowa’s John & Marcia Carver Non-Profit Genetic Testing Laboratory in February 2006. Left to right: Dr. Wen-Hsiang Lee (BPEI), Dr. Edwin Stone (Iowa), Dr. Craig McKeown (BPEI), Dr. Byron Lam (BPEI), Dr. Audina Berrocal (BPEI), Dr. Sander Dubovy (BPEI), geneticist Tania Arguello, MS (BPEI).
- Thorough examination including ancillary tests such as visual fields, fundus photography, optical coherence tomography, and electrophysiology
- Prompt screening for known genes of the clinical condition by the John & Marcia Carver Nonprofit Genetic Testing Laboratory (NGTL) of the University of Iowa
- Counseling of cause, prognosis, inheritance pattern (including family members at risk), and up-to-date research and treatment strategies.
- Scheduling of appropriate follow-up
- Comprehensive evaluation offered to pertinent family members
Qualified patients will be asked to participate in clinical trials (e.g. gene-directed clinical trials). As new clinical trials are developed, qualified patients will be recalled and informed.
Education of Ophthalmologists-in-Training. An ophthalmology resident and a fellow will be an intrinsic part of the hereditary retinal disease clinic. At the end of the clinic, the attending will hold a teaching session to discuss clinical findings and genetics for patients seen that day.
Genetic Testing and Genetic Research. Genetic testing will be performed on all patients of the hereditary retinal disease clinic.
Prompt screening for known genes of the clinical condition will be performed by the Nonprofit Genetic Testing Laboratory (NGTL) of the University of Iowa. The genetic laboratory at the University of Iowa under the direction of Dr. Edwin M. Stone has 20 years of experience in genetic research and has extensive experience in gene screening. DNA samples of patients including those with currently unknown genotype will be stored and be available for new genotype identification for investigators at the University of Miami and University of Iowa.
Clinical Research. Clinical findings and images will be catalogued and made available on the computer in a user-friendly manner to foster clinical research into clinical expression of hereditary retinal disease. Examples of clinical studies will include:
- Penetrance of disease-causing genetic variations
- Detailed natural history of disease associated with certain groups of disease-causing genetic variations
- Novel retinal imaging features in disease subtypes
Community Outreach to Physicians and Patients. A sustained outreach program to referring physicians and patients with hereditary retinal disease will include:
- Mailings and Conferences to educate referring physicians about the Center and the latest in hereditary retinal disease
- Patient-friendly webpage of the Center