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AMD Genetic / Risk Factors AMD Genetic / Risk Factors

AMD Genetic / Risk Factors - PowerPoint Presentation

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AMD Genetic / Risk Factors - PPT Presentation

Khodabande Farabi Eye Hospital TUMS Modifiable RFs Genetic bases Genetic testing to do or not to do Risk Score Risk Factors Development Progression NonModifiable RFs Age The number one ID: 932197

risk amd areds genetic amd risk genetic areds eye develop progression score disease advanced factor smoking formulation cfh high

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Slide1

AMD Genetic / Risk Factors

KhodabandeFarabi Eye HospitalTUMS

Slide2

Modifiable RFs ?

Genetic bases?Genetic testing, to do or not to do?

Risk Score?

Slide3

Risk Factors

DevelopmentProgression

Slide4

Non-Modifiable RFs

Slide5

Age

The number one risk factor is age. One-third of adults over 75 are affected by AMD.

Slide6

Gender

Females are more likely to develop AMD than males. This

factor may be because females live longer than males, and thus have more time to develop the disease.

Slide7

Presence of AMD in One Eye

If a person has AMD in one eye, he or she is more likely to develop it in the other eye.

Slide8

Race

Caucasians are more likely to develop AMD than other races. This factor may be related to differences in

genetic background or pigmentation.

Slide9

Family History of AMD

A person is more likely to develop AMD if someone in his or her immediate family has had it.First degree

3 times

Slide10

Eye Color

People with light-colored eyes are more likely to develop the dry type of AMD. This

factor may be because light-pigmented eyes offer less protection from damaging UV light.

Slide11

Clinical Examination (AREDS 1)

Large drusen

Pigmentary changes (hypo, hyper, non central

GA

)

Score 0 / < 1%

Score 1 / 5%

Score 2 /12%

Score 3 / 25%

Score 4 / 50%

Slide12

Modifiable

RFs

Slide13

Smoking

Smoking causes oxidative damage, which may contribute to the development and progression of this disease.

two to five fold.

Slide14

Diet

Avoid: Fat, Cholesterol and high glycemic index foods

Recommend : antioxidants and green leafy vegetables

Slide15

High-glycemic index foods: white rice, bread and pasta

Low-glycemic foods: whole grain breads or oatmeal

Slide16

AREDS 1 Conclusions

Persons older than 55 years should have dilated eye examinations to determine their risk of developing advanced AMD.

Increased intake of antioxidants and zinc

lowered the risk for disease progression by

25%

in patients with intermediate or advanced AMD

Slide17

2. Those with

extensive intermediate size drusenat least 1 large drusen

noncentral geographic atrophy

advanced AMD or vision loss due to AMD

and

without contraindications such as smoking

,

should

consider taking a supplement of antioxidants plus zinc such as that used in this study.

in 1 or both eyes

in 1 eye

Slide18

AREDS2 / Primary goal:

if the addition of 10mg lutein

2mg zeaxanthin 1,000mg

omega-3

long-chain fatty acids (350mg DHA and 650mg EPA)

to the original AREDS formulation would further reduce the risk of progression to advanced AMD.

Slide19

AREDS 2 Results

Omega-3 fatty acid supplementation did not yield a statistically significant reduction in the progression of AMD.

Addition of lutein, zeaxanthin to the AREDS formulation in primary analyses did

not

further reduce risk of progression to advanced AMD.

Slide20

But….

Lutein and zeaxanthin have a role in AMD management, and should replace beta-carotene in the original AREDS formula.

Slide21

Vitamin C

500 mgVitamin E 400

IUZn 80 mg

Lutein

10

mg

Zeaxanthin

2

mg

Slide22

Prolonged Sun Exposure

Although the evidence is not conclusive, some studies suggest an association between AMD and cumulative eye damage from ultraviolet (UV) and other light.

Slide23

Inactivity

In dry AMD, the retina does not receive adequate oxygen, leading to the death of cells in the macula. Exercise

improves cardiovascular health and might help prevent AMD.

Slide24

Obesity

A person with a BMI of greater than 30 is 2.5 times more likely to develop the disease than a person with a lower BMI.

Slide25

High Blood Pressure

High blood pressure, like smoking, leads to a constriction (narrowing) of the blood vessels that nourish the retina, restricting oxygen flow.

Slide26

Slide27

Family studies reporting increased risk of 2–3 fold among first-degree relatives of patients.

Increased monozygotic vs. dizygotic twin concordance.

Slide28

Genetic and epidemiological research has established the undeniable role of genetic variation

in the etiology of AMD, with the heritable component estimated to be between 45% and 70% .

The odds ratio homozygous : between 3.5 and 7.4

Slide29

q

arm,ch 1 : alternative complement system genes:

CFH gene, factor B (BF)/complement component 2 (C2),complement component 3 (C3

),

and complement factor I

q arm, ch10 :

ARMS2

and

HTRA1.

genes

involved in transporting and processing HDL (hepatic lipase C (

LIPC

) )

.

Tissue

inhibitor of metalloproteinase 3

(

TIMP3

)

:early-onset

form of macular degeneration known as

Sorsby's

fundus dystrophy

Slide30

heterozygote : a

2.5-fold increase in developing AMDhomozygous : a six-fold

increase in developing AMD

Slide31

CFH Non-neovascular AMD (GA)

ARMS2 Neovascular

AMD (CNV)

Slide32

Awh

et al:No CFH risk alleles and with 1 or 2 ARMS2 risk

alleles derived maximum benefit from zinc-only supplementation.

Slide33

One or two CFH

risk alleles and no ARMS2 risk alleles derived maximum benefit from antioxidant-only supplementation.Treatment with zinc was associated with

increased progression to advanced AMD.

Slide34

Slide35

Slide36

Slide37

Slide38

Slide39

Slide40

Carl C.

Awh, MD

Emily Y. Chew, MD

Slide41

Slide42

AREDS

and AREDS2 supplements, remains the only proven beneficial formulation regardless of genotype.

Genetic testing is not recommended for initiating or determining the appropriateness of the AREDS formulation.

One should

not

deprive patients

of a therapy that has been proven

to have

significant public health impact on the basis of a

statistically flawed

, not replicated retrospective analysis of existing data

.

Slide43

Genetic testing / Drawbacks

Until there is a true cure for AMD, knowing an individual’s risk factors may do little but worry a patient.

Telling a patient that he is at low risk based on our current knowledge may give them a

false sense of security

.

W

e

may be unnecessarily

frightening

our patients who may test at higher risk, but never develop the disease.

The

biggest downfall, some point out, may be that once this information is obtained, it could fall into the hands of

insurance

companies that provide medical, disability and life insurance.

Slide44

Risk Scores

Risk scores have the potential to aid in evaluating the contribution of multiple factors to disease development and outcomes, progression, and response to treatment.

Slide45

Slide46

Take home messages

Modifiable RFs:Smoking cessationDiet low in fat, high in antioxidant

SupplementsWeight controlBlood pressure control

Exercise

CFH / GA ARMS2/ CNV

Genetic testing is

not recommended

for initiating or determining the appropriateness of the AREDS formulation.