Department of Ophthalmology, University of British Columbia The Eye Care Circle, Retinal Degenerative Disease and Retinitis Pigmentosa Dr. David Maberley Associate Professor Department of Ophthalmology, University of British Columbia

Background Why are we here… You are: Individuals, concerned family members, friends, health care workers whose lives have been affected by or work intersects with Retinal Degenerative Diseases (RDD) In particular, I welcome people recently diagnosed with a RDD or with longstanding conditions who have not received follow-up care, a firm diagnosis, or up-to-date information about options for living with RDD

Background Well, who am I… I am: A retina specialist with almost 15 years of involvement in the care of patients and families with RDDs Why we are here: There is no ‘cure’ for the conditions that affect most of you I’m here to explain who can assist you in (1) improving your quality of life (2) help you preserve vision (3) inform you about empowering yourselves to help us all more forward in fighting visual impairment

RDDs Non-hereditary or Mixed Mechanism Age-related macular degeneration Hereditary – the focus of this discussion A genetic defect leads to disease Can be passed-on to children Can be a new defect (mutation)

RDDs Hereditary Congenital Later-onset Leber’s Congenital Amaurosis Achromatopsia Congenital Stationary Night Blindness Later-onset Stargardt’s Disease Retinitis Pigmentosa

2000 – Human Genome Project “With this profound new knowledge, humankind is on the verge of gaining immense new power to heal. Genome science will have a real impact on all our lives and even more on the lives of our children. It will revolutionize the diagnosis, prevention, and treatment of most, if not all, human diseases.”

2000 – Human Genome Project June 26, 2000 President Bill Clinton, announcing the completion of the first draft of the human genome Despite the scientific advances of the human genome project, little practical impact in RDDs noticed, so far… This will be changing soon…but before we address that issue…

Disease Identification Problem: Disease Identification

The Retina

Retinal Histology

Why access expert information? Today, there is easy access to a lot of information from a lot of sources (internet) This information is not filtered and can be misleading Patients need accurate information about what is available and likely to be of benefit For example, many treatments are touted on the internet for conditions many of you have, but these treatments may not be effective and could even cause harm There will not be one management option, but likely a range…depending on your age, condition, stage of disease

Who are the Key Players Family doctors Social workers Low vision specialists Genetic counselors Optometrists Ophthalmologists Retina specialists Retina specialists with an interest in RP

Does it matter who is caring for you? All these experts can be of benefit for patients with RDD You may not need all these specialists all the time, but you should maintain periodic contact with these individuals Depending on patient age, condition, stability, usually a visit every 1-2 yrs is reasonable Some of you might not have contact with some of these care providers

Medical Referral Need BC MSP coverage Seek an appointment with your family MD or comprehensive ophthalmologist to arrange for referral to the other care providers…low vision, social work, retina Family MD good starting point, can manage other associated medical conditions, is the ‘quarterback’ of your general care Communication among care providers is essential to ensure best care

Genetic Testing What is this? Who should be tested? Analysis of patient’s blood sample to determine the gene sequence error responsible for the disease Blue-print error affecting retinal cell function Who should be tested? People with specific family histories, retinal appearances, associated conditions (hearing loss) are likely to have successful testing

Genetic Testing Limitations Over 150 genes cause retinal disease Thousands of mutations within these genes Most people who are tested do no have positive results

Genetic Testing How do you get tested? A referral is required from a physician to initiate genetic testing Your retina specialist and local genetics specialist can help you figure out whether testing will be of benefit Need a genetic counselor involved to interpret results At UBC, there are a number of retina specialists managing RP (DALM, AM, KGE)

Psychosocial Support Highly recommended for adults, children, families dealing with RDD Help with school issues, career planning, work-related issues, depression etc. Can be arranged through family MD Social workers, CNIB, psychiatrists of no cost to patients

Financial Support Depends on severity of vision loss Disability tax credit Claim medical expenses on income tax Assistive Devices Program can help support low vision aids BC Coalition of People with Disabilities www.bccdp.bc.ca BC Government www.personalsupports.bc.ca

Low Vision Support Referral usually made by eye care provider who knows your ocular state CNIB UBC Department of Ophthalmology Dr. Mary Lou Jackson Vision resource workers can be contacted through school boards

Research/Support Groups FFB website www.ffb.ca Recent advances in research posted Invormation events such as ‘Vision Quest’ Connect with other people with RDD Exciting figure skaters and washed-up hockey players to cheer for Patient Registry

Being Proactive Talk about your needs publicly…friends, coworkers, community members Get your message to your school board, MP, MLA Let FFB know what you think is missing in the area of care/help for people with RDD Make sure you demand increased funding for patients with and research about visual disabilities

FFB Registry Based at Sick Kids Hospital in Toronto Goals To identify and register patients with RDDs expecially if a genetic diagnosis has been identified To collect information describing retinal function and medical issues relating to those registered To allow scientists access to a specific patient population for research…gives patients an opportunity to participate in ethically approved research studies Registry is not a research project, but a powerful tool developed for patients to allow for improved research and care

Thank You