The Eye Care Circle, The Eye Care Circle, Retinal Degenerative Retinal Degenerative Disease and Retinitis Disease and Retinitis

PigmentosaPigmentosa

Dr. David MaberleyDr. David MaberleyAssociate ProfessorAssociate Professor

Department of Ophthalmology, Department of Ophthalmology, University of British ColumbiaUniversity of British Columbia

BackgroundBackground

► Why are we here…Why are we here…► You are: You are:

Individuals, concerned family members, friends, Individuals, concerned family members, friends, health care workers whose health care workers whose lives have been lives have been affected byaffected by or or work intersectswork intersects with Retinal with Retinal Degenerative Diseases (RDD)Degenerative Diseases (RDD)

In particular, I welcome people In particular, I welcome people recently recently diagnoseddiagnosed with a RDD or with with a RDD or with longstanding longstanding conditionsconditions who have not received follow-up care, who have not received follow-up care, a firm diagnosis, or up-to-date information about a firm diagnosis, or up-to-date information about options for living with RDDoptions for living with RDD

BackgroundBackground

► Well, who am I…Well, who am I…► I am: A retina specialist with almost 15 I am: A retina specialist with almost 15

years of involvement in the care of patients years of involvement in the care of patients and families with RDDsand families with RDDs

► Why we are here: Why we are here: There is no ‘cure’ for the conditions that affect There is no ‘cure’ for the conditions that affect

most of youmost of you I’m here to explain who can assist you in (1) I’m here to explain who can assist you in (1)

improving your quality of life (2) help you improving your quality of life (2) help you preserve vision (3) inform you about empowering preserve vision (3) inform you about empowering yourselves to help us all more forward in fighting yourselves to help us all more forward in fighting visual impairmentvisual impairment

RDDsRDDs

►Non-hereditary or Mixed MechanismNon-hereditary or Mixed Mechanism Age-related macular degeneration Age-related macular degeneration

►Hereditary – the focus of this Hereditary – the focus of this discussiondiscussion A genetic defect leads to diseaseA genetic defect leads to disease Can be passed-on to childrenCan be passed-on to children Can be a new defect (mutation)Can be a new defect (mutation)

RDDsRDDs

►HereditaryHereditary CongenitalCongenital

►Leber’s Congenital AmaurosisLeber’s Congenital Amaurosis►AchromatopsiaAchromatopsia►Congenital Stationary Night BlindnessCongenital Stationary Night Blindness

Later-onset Later-onset ►Stargardt’s DiseaseStargardt’s Disease►Retinitis PigmentosaRetinitis Pigmentosa

2000 – Human Genome 2000 – Human Genome ProjectProject

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

2000 – Human Genome 2000 – Human Genome ProjectProject

► June 26, 2000June 26, 2000►President Bill Clinton, announcing the President Bill Clinton, announcing the

completion of the first draft of the completion of the first draft of the human genomehuman genome

►Despite the scientific advances of the Despite the scientific advances of the human genome project, little practical human genome project, little practical impact in RDDs noticed, so far…impact in RDDs noticed, so far…

►This will be changing soon…but before This will be changing soon…but before we address that issue…we address that issue…

Problem:Disease

Identification

The Retina The Retina

Retinal HistologyRetinal Histology

Why access expert Why access expert information?information?

► Today, there is easy access to a lot of information Today, there is easy access to a lot of information from a lot of sources (internet)from a lot of sources (internet)

► This information is not filtered and can be This information is not filtered and can be misleadingmisleading

► Patients need accurate information about what is Patients need accurate information about what is available and likely to be of benefitavailable and likely to be of benefit For example, many treatments are touted on the internet For example, many treatments are touted on the internet

for conditions many of you have, but these treatments for conditions many of you have, but these treatments may not be effective and could even cause harmmay not be effective and could even cause harm

► There will not be one management option, but There will not be one management option, but likely a range…depending on your age, condition, likely a range…depending on your age, condition, stage of diseasestage of disease

Who are the Key PlayersWho are the Key Players

►Family doctorsFamily doctors►Social workersSocial workers►Low vision specialistsLow vision specialists►Genetic counselorsGenetic counselors►OptometristsOptometrists►OphthalmologistsOphthalmologists

Retina specialistsRetina specialists Retina specialists with an interest in RPRetina specialists with an interest in RP

Does it matter who is caring for Does it matter who is caring for you?you?

► All these experts can be of benefit for All these experts can be of benefit for patients with RDDpatients with RDD

► You may not need all these specialists all You may not need all these specialists all the time, but you should maintain periodic the time, but you should maintain periodic contact with these individuals contact with these individuals

► Depending on patient age, condition, Depending on patient age, condition, stability, usually a visit every 1-2 yrs is stability, usually a visit every 1-2 yrs is reasonablereasonable

► Some of you might not have contact with Some of you might not have contact with some of these care providerssome of these care providers

Medical ReferralMedical Referral

► Need BC MSP coverageNeed BC MSP coverage► Seek an appointment with your family MD or Seek an appointment with your family MD or

comprehensive ophthalmologist to arrange comprehensive ophthalmologist to arrange for referral to the other care providers…low for referral to the other care providers…low vision, social work, retinavision, social work, retina

► Family MD good starting point, can manage Family MD good starting point, can manage other associated medical conditions, is the other associated medical conditions, is the ‘quarterback’ of your general care‘quarterback’ of your general care

► Communication among care providers is Communication among care providers is essential to ensure best careessential to ensure best care

Genetic TestingGenetic Testing

►What is this?What is this? Analysis of patient’s blood sample to Analysis of patient’s blood sample to

determine the gene sequence error determine the gene sequence error responsible for the diseaseresponsible for the disease

Blue-print error affecting retinal cell functionBlue-print error affecting retinal cell function

►Who should be tested?Who should be tested? People with specific family histories, retinal People with specific family histories, retinal

appearances, associated conditions (hearing appearances, associated conditions (hearing loss) are likely to have successful testingloss) are likely to have successful testing

Genetic TestingGenetic Testing

►LimitationsLimitations Over 150 genes cause retinal diseaseOver 150 genes cause retinal disease Thousands of mutations within these Thousands of mutations within these

genesgenes Most people who are tested do no have Most people who are tested do no have

positive resultspositive results

Genetic TestingGenetic Testing

►How do you get tested?How do you get tested? A referral is required from a physician to A referral is required from a physician to

initiate genetic testinginitiate genetic testing Your retina specialist and local genetics Your retina specialist and local genetics

specialist can help you figure out whether specialist can help you figure out whether testing will be of benefittesting will be of benefit

Need a genetic counselor involved to Need a genetic counselor involved to interpret resultsinterpret results

►At UBC, there are a number of retina At UBC, there are a number of retina specialists managing RP (DALM, AM, specialists managing RP (DALM, AM, KGE)KGE)

Psychosocial SupportPsychosocial Support

►Highly recommended for adults, Highly recommended for adults, children, families dealing with RDDchildren, families dealing with RDD

►Help with school issues, career Help with school issues, career planning, work-related issues, planning, work-related issues, depression etc.depression etc.

►Can be arranged through family MDCan be arranged through family MD►Social workers, CNIB, psychiatrists of Social workers, CNIB, psychiatrists of

no cost to patientsno cost to patients

Financial SupportFinancial Support

►Depends on severity of vision lossDepends on severity of vision loss Disability tax creditDisability tax credit

►Claim medical expenses on income taxClaim medical expenses on income tax►Assistive Devices Program can help Assistive Devices Program can help

support low vision aidssupport low vision aids►BC Coalition of People with Disabilities BC Coalition of People with Disabilities

www.bccdp.bc.ca►BC Government BC Government

www.personalsupports.bc.cawww.personalsupports.bc.ca

Low Vision SupportLow Vision Support

►Referral usually made by eye care Referral usually made by eye care provider who knows your ocular stateprovider who knows your ocular state CNIBCNIB UBC Department of OphthalmologyUBC Department of Ophthalmology Dr. Mary Lou JacksonDr. Mary Lou Jackson Vision resource workers can be contacted Vision resource workers can be contacted

through school boardsthrough school boards

Research/Support GroupsResearch/Support Groups

►FFB website FFB website www.ffb.ca Recent advances in research postedRecent advances in research posted Invormation events such as ‘Vision Quest’Invormation events such as ‘Vision Quest’ Connect with other people with RDDConnect with other people with RDD Exciting figure skaters and washed-up Exciting figure skaters and washed-up

hockey players to cheer forhockey players to cheer for Patient RegistryPatient Registry

Being ProactiveBeing Proactive

► Talk about your needs publicly…friends, Talk about your needs publicly…friends, coworkers, community memberscoworkers, community members

► Get your message to your school board, MP, Get your message to your school board, MP, MLAMLA

► Let FFB know what you think is missing in the Let FFB know what you think is missing in the area of care/help for people with RDDarea of care/help for people with RDD

► Make sure you demand increased funding for Make sure you demand increased funding for patients with and research about visual patients with and research about visual disabilitiesdisabilities

FFB RegistryFFB Registry

► Based at Sick Kids Hospital in TorontoBased at Sick Kids Hospital in Toronto► GoalsGoals

To identify and register patients with RDDs To identify and register patients with RDDs expecially if a genetic diagnosis has been identifiedexpecially if a genetic diagnosis has been identified

To collect information describing retinal function To collect information describing retinal function and medical issues relating to those registeredand medical issues relating to those registered

To allow scientists access to a specific patient To allow scientists access to a specific patient population for research…gives patients an population for research…gives patients an opportunity to participate in ethically approved opportunity to participate in ethically approved research studiesresearch studies

► Registry is not a research project, but a Registry is not a research project, but a powerful tool developed for patients to allow powerful tool developed for patients to allow for improved research and carefor improved research and care

Thank YouThank You