AMD Flashcards

1
Q

What is the distribution of wet and dry AMD?

A

leading cause of blindness in developed world in patients over 50

85-90% dry

10-15% wet

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2
Q

How many new cases of wet AMD are their annually?

A

71,000

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3
Q

Where do normal aging changes of the retina take affect?

A

outer retina, RPE, Bruchs, and choriocapillaris

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4
Q

What are specific aging changes in the retina, at the photoreceptors?

A

decreased density and distribution

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5
Q

What are specific aging changes in the retina, at the level of RPE?

A

ultrastructural changes leading to

  1. loss of melanin granules
  2. formation of lipofucsin granules
  3. accumulation of residual bodies
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6
Q

What are specific aging changes in the retina, at the level of Bruchs?

A

Basal laminar and basal linear deposits, of granular, lipid-rich material and widely spaced collagen fibers, collect between the plasma membrane of RPE cells and inner collagenous layer of Bruch membrane on either side of BM of RPE

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7
Q

What are basal laminar drusen?

A

Collection of granular lipid-rich deposits and widely spaced collagen fibers that

collect between the plasma membrane and BM of RPE

above Bruchs

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8
Q

What are basal linear drusen?

A

Deposits of phospholipid vesicles and electron-dense granules between BM of RPE and BM of choriocapillaris in the inner collagenous zone of Bruch membrane

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9
Q

T or F:

Basal laminar and basal linear drusen are diagnositic features of AMD

A

False

These drusen are normal aging changes of the retina/RPE/choriocapillaris complex

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10
Q

What are specific aging changes that occur at the level of the choriocapillaris?

A

progressive involution

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11
Q

What are the risk factors of AMD?

A
  1. Family history
  2. Age over 65, Female
  3. HTN, HLD, CVD
  4. elevated inflammatory markers (ex. CRP)
  5. waist-to-hip ratio for men
  6. smoking
  7. hyperopia, light iris
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12
Q

Where do the genes associated with AMD have their effect?

A

Biochemical pathways:

  1. compliment cascade (compliment)
  2. lipid transport and metabolism (lipids)
  3. modulation of extracellular matrix (ECM)
  4. clearance of ATRA from photoreceptors (cAp)
  5. angiogenesis
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13
Q

mnemonic for genetic association for AMD

A

cAp LEAC

clearance of ATRA from photoreceptors: ABCA4

Lipid transport and metabolism: APOE

ECM: COL8A1 and 10A1, TIMP3

angiogenesis: MMP9, VEGFA

compliment cascade: alternative compliment (CFH, CFI, C2/CFB, C3, C7)

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14
Q

What are 2 major susceptibility genes for AMD?

What risk do they confer if homozygous mutations in both?

A

CFH and ARMS2

50x increased risk of AMD

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15
Q

The CFH gene encodes for?

Mutation?

Associated Risk?

A

Compliment factor H

Y402H mutation

heterozygous: 4.6x inc risk of AMD
homozygous: 7.4x inc risk of AMD

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16
Q

The ARMS2 gene encodes for?

Mutation?

Associated risk?

A

10q26, ARMS2/HTRA1 and MMP20 CNV lesion size

ARM2 A69S

heterozygous: 2.7x inc risk of AMD
homozygous: 8.2x increased risk of AMD

17
Q
A
18
Q

T or F:

Testing for patients to predict optimal pharamacological or nutritional-suppliment intervents are recommended for newly diagnosed patients.

A

False

Pharmacogenomic testing currently lacks clearly validated evidence but may be useful in the future

19
Q

What is the defining feature of dry AMD? What are other indicators?

A

Drusen

other indicators: RPE abnormalities (ex. hyperpigmentation and atrophy)

20
Q

Where are drusen located?

What do they correspond to histologically?

A

basal surface of RPE in the postequatorial retina

thickening of inner Bruchs

21
Q

What results in the thickening of the inner aspect of Bruchs/RPE?

A

Separation of Bruchs from RPE = PED

22
Q

What is the result of a small detachement between Bruchs and RPE due to thickening?

A

large or soft drusen

23
Q

A large detachment of the inner aspect of Bruchs and RPE leading to their separation results in what?

A

Drusenoid PED