1. 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

2. 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

3. 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

4. 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)

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

6. 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.”

7. 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…

8. Disease Identification
Problem:
Disease Identification

9. The Retina

10. Retinal Histology

12. 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

13. 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

14. 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

15. 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

16. 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

17. 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

18. 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)

19. 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

20. 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
BC Government

21. 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

22. Research/Support Groups
FFB website
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

23. 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

24. 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

25. Thank You